SNP Links for Protein (Select 21729884) - SNP

Links from Protein

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Select item 14876430051.

rs1487643005 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:99162496 (GRCh38)
2:99778959 (GRCh37)
Canonical SPDI:: NC_000002.12:99162495:T:C
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.99162496T>C, NC_000002.11:g.99778959T>C, NG_050665.1:g.12542T>C, NM_015929.4:c.539T>C, NM_015929.3:c.539T>C, NM_145197.3:c.539T>C, NM_145197.2:c.539T>C, NM_145198.3:c.539T>C, NM_145198.2:c.539T>C, NM_145199.3:c.539T>C, NM_145199.2:c.539T>C, NR_037935.2:n.1024T>C, NR_037935.1:n.1024T>C, NM_001204830.2:c.539T>C, NM_001204830.1:c.539T>C, NR_037936.2:n.688T>C, NR_037936.1:n.700T>C, NM_145196.2:c.539T>C, NM_145196.1:c.539T>C, NP_057013.1:p.Leu180Ser, NP_660198.1:p.Leu180Ser, NP_660199.1:p.Leu180Ser, NP_660200.1:p.Leu180Ser, NP_001191759.1:p.Leu180Ser

Select item 14871766962.

rs1487176696 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:99162224 (GRCh38)
2:99778687 (GRCh37)
Canonical SPDI:: NC_000002.12:99162223:G:
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.99162224del, NC_000002.11:g.99778687del, NG_050665.1:g.12270del, NM_015929.4:c.267del, NM_015929.3:c.267del, NM_145197.3:c.267del, NM_145197.2:c.267del, NM_145198.3:c.267del, NM_145198.2:c.267del, NM_145199.3:c.267del, NM_145199.2:c.267del, NR_037935.2:n.752del, NR_037935.1:n.752del, NM_001204830.2:c.267del, NM_001204830.1:c.267del, NR_037936.2:n.416del, NR_037936.1:n.428del, NM_145196.2:c.267del, NM_145196.1:c.267del, NP_057013.1:p.Met89fs, NP_660198.1:p.Met89fs, NP_660199.1:p.Met89fs, NP_660200.1:p.Met89fs, NP_001191759.1:p.Met89fs

Select item 14852473023.

rs1485247302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:99162298 (GRCh38)
2:99778761 (GRCh37)
Canonical SPDI:: NC_000002.12:99162297:A:G
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.99162298A>G, NC_000002.11:g.99778761A>G, NG_050665.1:g.12344A>G, NM_015929.4:c.341A>G, NM_015929.3:c.341A>G, NM_145197.3:c.341A>G, NM_145197.2:c.341A>G, NM_145198.3:c.341A>G, NM_145198.2:c.341A>G, NM_145199.3:c.341A>G, NM_145199.2:c.341A>G, NR_037935.2:n.826A>G, NR_037935.1:n.826A>G, NM_001204830.2:c.341A>G, NM_001204830.1:c.341A>G, NR_037936.2:n.490A>G, NR_037936.1:n.502A>G, NM_145196.2:c.341A>G, NM_145196.1:c.341A>G, NP_057013.1:p.Asn114Ser, NP_660198.1:p.Asn114Ser, NP_660199.1:p.Asn114Ser, NP_660200.1:p.Asn114Ser, NP_001191759.1:p.Asn114Ser

Select item 14844219084.

rs1484421908 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:99162918 (GRCh38)
2:99779381 (GRCh37)
Canonical SPDI:: NC_000002.12:99162917:T:C
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.99162918T>C, NC_000002.11:g.99779381T>C, NG_050665.1:g.12964T>C, NM_015929.4:c.961T>C, NM_015929.3:c.961T>C, NM_145197.3:c.961T>C, NM_145197.2:c.961T>C, NM_145198.3:c.961T>C, NM_145198.2:c.961T>C, NM_145199.3:c.961T>C, NM_145199.2:c.961T>C, NR_037935.2:n.1446T>C, NR_037935.1:n.1446T>C, NM_001204830.2:c.961T>C, NM_001204830.1:c.961T>C, NR_037936.2:n.1110T>C, NR_037936.1:n.1122T>C, NM_145196.2:c.961T>C, NM_145196.1:c.961T>C

Select item 14809358745.

rs1480935874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:99162417 (GRCh38)
2:99778880 (GRCh37)
Canonical SPDI:: NC_000002.12:99162416:C:T
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.99162417C>T, NC_000002.11:g.99778880C>T, NG_050665.1:g.12463C>T, NM_015929.4:c.460C>T, NM_015929.3:c.460C>T, NM_145197.3:c.460C>T, NM_145197.2:c.460C>T, NM_145198.3:c.460C>T, NM_145198.2:c.460C>T, NM_145199.3:c.460C>T, NM_145199.2:c.460C>T, NR_037935.2:n.945C>T, NR_037935.1:n.945C>T, NM_001204830.2:c.460C>T, NM_001204830.1:c.460C>T, NR_037936.2:n.609C>T, NR_037936.1:n.621C>T, NM_145196.2:c.460C>T, NM_145196.1:c.460C>T, NP_057013.1:p.Leu154Phe, NP_660198.1:p.Leu154Phe, NP_660199.1:p.Leu154Phe, NP_660200.1:p.Leu154Phe, NP_001191759.1:p.Leu154Phe

Select item 14767400706.

rs1476740070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:99162138 (GRCh38)
2:99778601 (GRCh37)
Canonical SPDI:: NC_000002.12:99162137:C:G
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.99162138C>G, NC_000002.11:g.99778601C>G, NG_050665.1:g.12184C>G, NM_015929.4:c.181C>G, NM_015929.3:c.181C>G, NM_145197.3:c.181C>G, NM_145197.2:c.181C>G, NM_145198.3:c.181C>G, NM_145198.2:c.181C>G, NM_145199.3:c.181C>G, NM_145199.2:c.181C>G, NR_037935.2:n.666C>G, NR_037935.1:n.666C>G, NM_001204830.2:c.181C>G, NM_001204830.1:c.181C>G, NR_037936.2:n.330C>G, NR_037936.1:n.342C>G, NM_145196.2:c.181C>G, NM_145196.1:c.181C>G, NP_057013.1:p.Pro61Ala, NP_660198.1:p.Pro61Ala, NP_660199.1:p.Pro61Ala, NP_660200.1:p.Pro61Ala, NP_001191759.1:p.Pro61Ala

Select item 14762379717.

rs1476237971 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 2:99162038 (GRCh38)
2:99778501 (GRCh37)
Canonical SPDI:: NC_000002.12:99162037:A:
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.99162038del, NC_000002.11:g.99778501del, NG_050665.1:g.12084del, NM_015929.4:c.81del, NM_015929.3:c.81del, NM_145197.3:c.81del, NM_145197.2:c.81del, NM_145198.3:c.81del, NM_145198.2:c.81del, NM_145199.3:c.81del, NM_145199.2:c.81del, NR_037935.2:n.566del, NR_037935.1:n.566del, NM_001204830.2:c.81del, NM_001204830.1:c.81del, NR_037936.2:n.230del, NR_037936.1:n.242del, NM_145196.2:c.81del, NM_145196.1:c.81del, NP_057013.1:p.Thr27_Val28insTer, NP_660198.1:p.Thr27_Val28insTer, NP_660199.1:p.Thr27_Val28insTer, NP_660200.1:p.Thr27_Val28insTer, NP_001191759.1:p.Thr27_Val28insTer

Select item 14748541288.

rs1474854128 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:99162232 (GRCh38)
2:99778695 (GRCh37)
Canonical SPDI:: NC_000002.12:99162231:A:G
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.99162232A>G, NC_000002.11:g.99778695A>G, NG_050665.1:g.12278A>G, NM_015929.4:c.275A>G, NM_015929.3:c.275A>G, NM_145197.3:c.275A>G, NM_145197.2:c.275A>G, NM_145198.3:c.275A>G, NM_145198.2:c.275A>G, NM_145199.3:c.275A>G, NM_145199.2:c.275A>G, NR_037935.2:n.760A>G, NR_037935.1:n.760A>G, NM_001204830.2:c.275A>G, NM_001204830.1:c.275A>G, NR_037936.2:n.424A>G, NR_037936.1:n.436A>G, NM_145196.2:c.275A>G, NM_145196.1:c.275A>G, NP_057013.1:p.Glu92Gly, NP_660198.1:p.Glu92Gly, NP_660199.1:p.Glu92Gly, NP_660200.1:p.Glu92Gly, NP_001191759.1:p.Glu92Gly

Select item 14714879889.

rs1471487988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:99162667 (GRCh38)
2:99779130 (GRCh37)
Canonical SPDI:: NC_000002.12:99162666:C:T
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.99162667C>T, NC_000002.11:g.99779130C>T, NG_050665.1:g.12713C>T, NM_015929.4:c.710C>T, NM_015929.3:c.710C>T, NM_145197.3:c.710C>T, NM_145197.2:c.710C>T, NM_145198.3:c.710C>T, NM_145198.2:c.710C>T, NM_145199.3:c.710C>T, NM_145199.2:c.710C>T, NR_037935.2:n.1195C>T, NR_037935.1:n.1195C>T, NM_001204830.2:c.710C>T, NM_001204830.1:c.710C>T, NR_037936.2:n.859C>T, NR_037936.1:n.871C>T, NM_145196.2:c.710C>T, NM_145196.1:c.710C>T, NP_057013.1:p.Ala237Val, NP_660198.1:p.Ala237Val, NP_660199.1:p.Ala237Val, NP_660200.1:p.Ala237Val, NP_001191759.1:p.Ala237Val

Select item 146852936510.

rs1468529365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:99162088 (GRCh38)
2:99778551 (GRCh37)
Canonical SPDI:: NC_000002.12:99162087:A:G
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Clinical significance:: pathogenic,uncertain-significance
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.99162088A>G, NC_000002.11:g.99778551A>G, NG_050665.1:g.12134A>G, NM_015929.4:c.131A>G, NM_015929.3:c.131A>G, NM_145197.3:c.131A>G, NM_145197.2:c.131A>G, NM_145198.3:c.131A>G, NM_145198.2:c.131A>G, NM_145199.3:c.131A>G, NM_145199.2:c.131A>G, NR_037935.2:n.616A>G, NR_037935.1:n.616A>G, NM_001204830.2:c.131A>G, NM_001204830.1:c.131A>G, NR_037936.2:n.280A>G, NR_037936.1:n.292A>G, NM_145196.2:c.131A>G, NM_145196.1:c.131A>G, NP_057013.1:p.Asn44Ser, NP_660198.1:p.Asn44Ser, NP_660199.1:p.Asn44Ser, NP_660200.1:p.Asn44Ser, NP_001191759.1:p.Asn44Ser

Select item 146491364711.

rs1464913647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:99162364 (GRCh38)
2:99778827 (GRCh37)
Canonical SPDI:: NC_000002.12:99162363:C:T
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.99162364C>T, NC_000002.11:g.99778827C>T, NG_050665.1:g.12410C>T, NM_015929.4:c.407C>T, NM_015929.3:c.407C>T, NM_145197.3:c.407C>T, NM_145197.2:c.407C>T, NM_145198.3:c.407C>T, NM_145198.2:c.407C>T, NM_145199.3:c.407C>T, NM_145199.2:c.407C>T, NR_037935.2:n.892C>T, NR_037935.1:n.892C>T, NM_001204830.2:c.407C>T, NM_001204830.1:c.407C>T, NR_037936.2:n.556C>T, NR_037936.1:n.568C>T, NM_145196.2:c.407C>T, NM_145196.1:c.407C>T, NP_057013.1:p.Ala136Val, NP_660198.1:p.Ala136Val, NP_660199.1:p.Ala136Val, NP_660200.1:p.Ala136Val, NP_001191759.1:p.Ala136Val

Select item 146249960512.

rs1462499605 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:99162511 (GRCh38)
2:99778974 (GRCh37)
Canonical SPDI:: NC_000002.12:99162510:A:C,NC_000002.12:99162510:A:G
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.99162511A>C, NC_000002.12:g.99162511A>G, NC_000002.11:g.99778974A>C, NC_000002.11:g.99778974A>G, NG_050665.1:g.12557A>C, NG_050665.1:g.12557A>G, NM_015929.4:c.554A>C, NM_015929.4:c.554A>G, NM_015929.3:c.554A>C, NM_015929.3:c.554A>G, NM_145197.3:c.554A>C, NM_145197.3:c.554A>G, NM_145197.2:c.554A>C, NM_145197.2:c.554A>G, NM_145198.3:c.554A>C, NM_145198.3:c.554A>G, NM_145198.2:c.554A>C, NM_145198.2:c.554A>G, NM_145199.3:c.554A>C, NM_145199.3:c.554A>G, NM_145199.2:c.554A>C, NM_145199.2:c.554A>G, NR_037935.2:n.1039A>C, NR_037935.2:n.1039A>G, NR_037935.1:n.1039A>C, NR_037935.1:n.1039A>G, NM_001204830.2:c.554A>C, NM_001204830.2:c.554A>G, NM_001204830.1:c.554A>C, NM_001204830.1:c.554A>G, NR_037936.2:n.703A>C, NR_037936.2:n.703A>G, NR_037936.1:n.715A>C, NR_037936.1:n.715A>G, NM_145196.2:c.554A>C, NM_145196.2:c.554A>G, NM_145196.1:c.554A>C, NM_145196.1:c.554A>G, NP_057013.1:p.Asp185Ala, NP_057013.1:p.Asp185Gly, NP_660198.1:p.Asp185Ala, NP_660198.1:p.Asp185Gly, NP_660199.1:p.Asp185Ala, NP_660199.1:p.Asp185Gly, NP_660200.1:p.Asp185Ala, NP_660200.1:p.Asp185Gly, NP_001191759.1:p.Asp185Ala, NP_001191759.1:p.Asp185Gly

Select item 146092805113.

rs1460928051 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:99162150 (GRCh38)
2:99778613 (GRCh37)
Canonical SPDI:: NC_000002.12:99162149:T:C
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.99162150T>C, NC_000002.11:g.99778613T>C, NG_050665.1:g.12196T>C, NM_015929.4:c.193T>C, NM_015929.3:c.193T>C, NM_145197.3:c.193T>C, NM_145197.2:c.193T>C, NM_145198.3:c.193T>C, NM_145198.2:c.193T>C, NM_145199.3:c.193T>C, NM_145199.2:c.193T>C, NR_037935.2:n.678T>C, NR_037935.1:n.678T>C, NM_001204830.2:c.193T>C, NM_001204830.1:c.193T>C, NR_037936.2:n.342T>C, NR_037936.1:n.354T>C, NM_145196.2:c.193T>C, NM_145196.1:c.193T>C, NP_057013.1:p.Phe65Leu, NP_660198.1:p.Phe65Leu, NP_660199.1:p.Phe65Leu, NP_660200.1:p.Phe65Leu, NP_001191759.1:p.Phe65Leu

Select item 145436620114.

rs1454366201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:99162001 (GRCh38)
2:99778464 (GRCh37)
Canonical SPDI:: NC_000002.12:99162000:G:A,NC_000002.12:99162000:G:T
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.99162001G>A, NC_000002.12:g.99162001G>T, NC_000002.11:g.99778464G>A, NC_000002.11:g.99778464G>T, NG_050665.1:g.12047G>A, NG_050665.1:g.12047G>T, NM_015929.4:c.44G>A, NM_015929.4:c.44G>T, NM_015929.3:c.44G>A, NM_015929.3:c.44G>T, NM_145197.3:c.44G>A, NM_145197.3:c.44G>T, NM_145197.2:c.44G>A, NM_145197.2:c.44G>T, NM_145198.3:c.44G>A, NM_145198.3:c.44G>T, NM_145198.2:c.44G>A, NM_145198.2:c.44G>T, NM_145199.3:c.44G>A, NM_145199.3:c.44G>T, NM_145199.2:c.44G>A, NM_145199.2:c.44G>T, NR_037935.2:n.529G>A, NR_037935.2:n.529G>T, NR_037935.1:n.529G>A, NR_037935.1:n.529G>T, NM_001204830.2:c.44G>A, NM_001204830.2:c.44G>T, NM_001204830.1:c.44G>A, NM_001204830.1:c.44G>T, NR_037936.2:n.193G>A, NR_037936.2:n.193G>T, NR_037936.1:n.205G>A, NR_037936.1:n.205G>T, NM_145196.2:c.44G>A, NM_145196.2:c.44G>T, NM_145196.1:c.44G>A, NM_145196.1:c.44G>T, NP_057013.1:p.Cys15Tyr, NP_057013.1:p.Cys15Phe, NP_660198.1:p.Cys15Tyr, NP_660198.1:p.Cys15Phe, NP_660199.1:p.Cys15Tyr, NP_660199.1:p.Cys15Phe, NP_660200.1:p.Cys15Tyr, NP_660200.1:p.Cys15Phe, NP_001191759.1:p.Cys15Tyr, NP_001191759.1:p.Cys15Phe

Select item 145283681715.

rs1452836817 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 2:99162312 (GRCh38)
2:99778775 (GRCh37)
Canonical SPDI:: NC_000002.12:99162311:A:
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.99162312del, NC_000002.11:g.99778775del, NG_050665.1:g.12358del, NM_015929.4:c.355del, NM_015929.3:c.355del, NM_145197.3:c.355del, NM_145197.2:c.355del, NM_145198.3:c.355del, NM_145198.2:c.355del, NM_145199.3:c.355del, NM_145199.2:c.355del, NR_037935.2:n.840del, NR_037935.1:n.840del, NM_001204830.2:c.355del, NM_001204830.1:c.355del, NR_037936.2:n.504del, NR_037936.1:n.516del, NM_145196.2:c.355del, NM_145196.1:c.355del, NP_057013.1:p.Thr119fs, NP_660198.1:p.Thr119fs, NP_660199.1:p.Thr119fs, NP_660200.1:p.Thr119fs, NP_001191759.1:p.Thr119fs

Select item 145219383616.

rs1452193836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:99162326 (GRCh38)
2:99778789 (GRCh37)
Canonical SPDI:: NC_000002.12:99162325:G:A
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.99162326G>A, NC_000002.11:g.99778789G>A, NG_050665.1:g.12372G>A, NM_015929.4:c.369G>A, NM_015929.3:c.369G>A, NM_145197.3:c.369G>A, NM_145197.2:c.369G>A, NM_145198.3:c.369G>A, NM_145198.2:c.369G>A, NM_145199.3:c.369G>A, NM_145199.2:c.369G>A, NR_037935.2:n.854G>A, NR_037935.1:n.854G>A, NM_001204830.2:c.369G>A, NM_001204830.1:c.369G>A, NR_037936.2:n.518G>A, NR_037936.1:n.530G>A, NM_145196.2:c.369G>A, NM_145196.1:c.369G>A

Select item 145184516617.

rs1451845166 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCACACTTGG>- [Show Flanks]
Chromosome:: 2:99162831 (GRCh38)
2:99779294 (GRCh37)
Canonical SPDI:: NC_000002.12:99162829:GTCACACTTGG:G
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.99162831_99162840del, NC_000002.11:g.99779294_99779303del, NG_050665.1:g.12877_12886del, NM_015929.4:c.874_883del, NM_015929.3:c.874_883del, NM_145197.3:c.874_883del, NM_145197.2:c.874_883del, NM_145198.3:c.874_883del, NM_145198.2:c.874_883del, NM_145199.3:c.874_883del, NM_145199.2:c.874_883del, NR_037935.2:n.1359_1368del, NR_037935.1:n.1359_1368del, NM_001204830.2:c.874_883del, NM_001204830.1:c.874_883del, NR_037936.2:n.1023_1032del, NR_037936.1:n.1035_1044del, NM_145196.2:c.874_883del, NM_145196.1:c.874_883del, NP_057013.1:p.Ser292fs, NP_660198.1:p.Ser292fs, NP_660199.1:p.Ser292fs, NP_660200.1:p.Ser292fs, NP_001191759.1:p.Ser292fs

Select item 144839965918.

rs1448399659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:99162127 (GRCh38)
2:99778590 (GRCh37)
Canonical SPDI:: NC_000002.12:99162126:T:C,NC_000002.12:99162126:T:G
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.99162127T>C, NC_000002.12:g.99162127T>G, NC_000002.11:g.99778590T>C, NC_000002.11:g.99778590T>G, NG_050665.1:g.12173T>C, NG_050665.1:g.12173T>G, NM_015929.4:c.170T>C, NM_015929.4:c.170T>G, NM_015929.3:c.170T>C, NM_015929.3:c.170T>G, NM_145197.3:c.170T>C, NM_145197.3:c.170T>G, NM_145197.2:c.170T>C, NM_145197.2:c.170T>G, NM_145198.3:c.170T>C, NM_145198.3:c.170T>G, NM_145198.2:c.170T>C, NM_145198.2:c.170T>G, NM_145199.3:c.170T>C, NM_145199.3:c.170T>G, NM_145199.2:c.170T>C, NM_145199.2:c.170T>G, NR_037935.2:n.655T>C, NR_037935.2:n.655T>G, NR_037935.1:n.655T>C, NR_037935.1:n.655T>G, NM_001204830.2:c.170T>C, NM_001204830.2:c.170T>G, NM_001204830.1:c.170T>C, NM_001204830.1:c.170T>G, NR_037936.2:n.319T>C, NR_037936.2:n.319T>G, NR_037936.1:n.331T>C, NR_037936.1:n.331T>G, NM_145196.2:c.170T>C, NM_145196.2:c.170T>G, NM_145196.1:c.170T>C, NM_145196.1:c.170T>G, NP_057013.1:p.Leu57Pro, NP_057013.1:p.Leu57Arg, NP_660198.1:p.Leu57Pro, NP_660198.1:p.Leu57Arg, NP_660199.1:p.Leu57Pro, NP_660199.1:p.Leu57Arg, NP_660200.1:p.Leu57Pro, NP_660200.1:p.Leu57Arg, NP_001191759.1:p.Leu57Pro, NP_001191759.1:p.Leu57Arg

Select item 144472761019.

rs1444727610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:99162803 (GRCh38)
2:99779266 (GRCh37)
Canonical SPDI:: NC_000002.12:99162802:T:G
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.99162803T>G, NC_000002.11:g.99779266T>G, NG_050665.1:g.12849T>G, NM_015929.4:c.846T>G, NM_015929.3:c.846T>G, NM_145197.3:c.846T>G, NM_145197.2:c.846T>G, NM_145198.3:c.846T>G, NM_145198.2:c.846T>G, NM_145199.3:c.846T>G, NM_145199.2:c.846T>G, NR_037935.2:n.1331T>G, NR_037935.1:n.1331T>G, NM_001204830.2:c.846T>G, NM_001204830.1:c.846T>G, NR_037936.2:n.995T>G, NR_037936.1:n.1007T>G, NM_145196.2:c.846T>G, NM_145196.1:c.846T>G, NP_057013.1:p.Asn282Lys, NP_660198.1:p.Asn282Lys, NP_660199.1:p.Asn282Lys, NP_660200.1:p.Asn282Lys, NP_001191759.1:p.Asn282Lys

Select item 144034382020.

rs1440343820 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCAATTTCCA [Show Flanks]
Chromosome:: 2:99162059 (GRCh38)
2:99778523 (GRCh37)
Canonical SPDI:: NC_000002.12:99162059:CAGTCAATTTCCA:CAGTCAATTTCCAGTCAATTTCCA
Gene:: LIPT1 (Varview), MITD1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: CAGTCAATTTC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.99162062_99162072dup, NC_000002.11:g.99778525_99778535dup, NG_050665.1:g.12108_12118dup, NM_015929.4:c.105_115dup, NM_015929.3:c.105_115dup, NM_145197.3:c.105_115dup, NM_145197.2:c.105_115dup, NM_145198.3:c.105_115dup, NM_145198.2:c.105_115dup, NM_145199.3:c.105_115dup, NM_145199.2:c.105_115dup, NR_037935.2:n.590_600dup, NR_037935.1:n.590_600dup, NM_001204830.2:c.105_115dup, NM_001204830.1:c.105_115dup, NR_037936.2:n.254_264dup, NR_037936.1:n.266_276dup, NM_145196.2:c.105_115dup, NM_145196.1:c.105_115dup, NP_057013.1:p.Asn39fs, NP_660198.1:p.Asn39fs, NP_660199.1:p.Asn39fs, NP_660200.1:p.Asn39fs, NP_001191759.1:p.Asn39fs

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