SNP Links for Protein (Select 972775550) - SNP

Links from Protein

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Select item 14906435681.

rs1490643568 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:76796095 (GRCh38)
11:76507139 (GRCh37)
Canonical SPDI:: NC_000011.10:76796094:T:C
Gene:: TSKU (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.76796095T>C, NC_000011.9:g.76507139T>C, NM_015516.4:c.479T>C, NM_015516.3:c.479T>C, NM_001318477.2:c.521T>C, NM_001318477.1:c.521T>C, NM_001318478.2:c.479T>C, NM_001318478.1:c.479T>C, NM_001258210.2:c.479T>C, NM_001258210.1:c.479T>C, NM_001318479.2:c.479T>C, NM_001318479.1:c.479T>C, XM_047426726.1:c.479T>C, NP_056331.2:p.Leu160Pro, NP_001305406.1:p.Leu174Pro, NP_001305407.1:p.Leu160Pro, NP_001245139.1:p.Leu160Pro, NP_001305408.1:p.Leu160Pro, XP_047282682.1:p.Leu160Pro

Select item 14906432092.

rs1490643209 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:76796056 (GRCh38)
11:76507100 (GRCh37)
Canonical SPDI:: NC_000011.10:76796055:CA:
Gene:: TSKU (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.76796056_76796057del, NC_000011.9:g.76507100_76507101del, NM_015516.4:c.440_441del, NM_015516.3:c.440_441del, NM_001318477.2:c.482_483del, NM_001318477.1:c.482_483del, NM_001318478.2:c.440_441del, NM_001318478.1:c.440_441del, NM_001258210.2:c.440_441del, NM_001258210.1:c.440_441del, NM_001318479.2:c.440_441del, NM_001318479.1:c.440_441del, XM_047426726.1:c.440_441del, NP_056331.2:p.Ser147fs, NP_001305406.1:p.Ser161fs, NP_001305407.1:p.Ser147fs, NP_001245139.1:p.Ser147fs, NP_001305408.1:p.Ser147fs, XP_047282682.1:p.Ser147fs

Select item 14885652703.

rs1488565270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:76795750 (GRCh38)
11:76506794 (GRCh37)
Canonical SPDI:: NC_000011.10:76795749:G:C
Gene:: TSKU (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.76795750G>C, NC_000011.9:g.76506794G>C, NM_015516.4:c.134G>C, NM_015516.3:c.134G>C, NM_001318477.2:c.176G>C, NM_001318477.1:c.176G>C, NM_001318478.2:c.134G>C, NM_001318478.1:c.134G>C, NM_001258210.2:c.134G>C, NM_001258210.1:c.134G>C, NM_001318479.2:c.134G>C, NM_001318479.1:c.134G>C, XM_047426726.1:c.134G>C, NP_056331.2:p.Ser45Thr, NP_001305406.1:p.Ser59Thr, NP_001305407.1:p.Ser45Thr, NP_001245139.1:p.Ser45Thr, NP_001305408.1:p.Ser45Thr, XP_047282682.1:p.Ser45Thr

Select item 14884127474.

rs1488412747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:76796594 (GRCh38)
11:76507638 (GRCh37)
Canonical SPDI:: NC_000011.10:76796593:C:A,NC_000011.10:76796593:C:G
Gene:: TSKU (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.76796594C>A, NC_000011.10:g.76796594C>G, NC_000011.9:g.76507638C>A, NC_000011.9:g.76507638C>G, NM_015516.4:c.978C>A, NM_015516.4:c.978C>G, NM_015516.3:c.978C>A, NM_015516.3:c.978C>G, NM_001318477.2:c.1020C>A, NM_001318477.2:c.1020C>G, NM_001318477.1:c.1020C>A, NM_001318477.1:c.1020C>G, NM_001318478.2:c.978C>A, NM_001318478.2:c.978C>G, NM_001318478.1:c.978C>A, NM_001318478.1:c.978C>G, NM_001258210.2:c.978C>A, NM_001258210.2:c.978C>G, NM_001258210.1:c.978C>A, NM_001258210.1:c.978C>G, NM_001318479.2:c.978C>A, NM_001318479.2:c.978C>G, NM_001318479.1:c.978C>A, NM_001318479.1:c.978C>G, XM_047426726.1:c.978C>A, XM_047426726.1:c.978C>G

Select item 14873743915.

rs1487374391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:76795743 (GRCh38)
11:76506787 (GRCh37)
Canonical SPDI:: NC_000011.10:76795742:G:A,NC_000011.10:76795742:G:T
Gene:: TSKU (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.76795743G>A, NC_000011.10:g.76795743G>T, NC_000011.9:g.76506787G>A, NC_000011.9:g.76506787G>T, NM_015516.4:c.127G>A, NM_015516.4:c.127G>T, NM_015516.3:c.127G>A, NM_015516.3:c.127G>T, NM_001318477.2:c.169G>A, NM_001318477.2:c.169G>T, NM_001318477.1:c.169G>A, NM_001318477.1:c.169G>T, NM_001318478.2:c.127G>A, NM_001318478.2:c.127G>T, NM_001318478.1:c.127G>A, NM_001318478.1:c.127G>T, NM_001258210.2:c.127G>A, NM_001258210.2:c.127G>T, NM_001258210.1:c.127G>A, NM_001258210.1:c.127G>T, NM_001318479.2:c.127G>A, NM_001318479.2:c.127G>T, NM_001318479.1:c.127G>A, NM_001318479.1:c.127G>T, XM_047426726.1:c.127G>A, XM_047426726.1:c.127G>T, NP_056331.2:p.Asp43Asn, NP_056331.2:p.Asp43Tyr, NP_001305406.1:p.Asp57Asn, NP_001305406.1:p.Asp57Tyr, NP_001305407.1:p.Asp43Asn, NP_001305407.1:p.Asp43Tyr, NP_001245139.1:p.Asp43Asn, NP_001245139.1:p.Asp43Tyr, NP_001305408.1:p.Asp43Asn, NP_001305408.1:p.Asp43Tyr, XP_047282682.1:p.Asp43Asn, XP_047282682.1:p.Asp43Tyr

Select item 14862342666.

rs1486234266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:76795843 (GRCh38)
11:76506887 (GRCh37)
Canonical SPDI:: NC_000011.10:76795842:C:T
Gene:: TSKU (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000096/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.76795843C>T, NC_000011.9:g.76506887C>T, NM_015516.4:c.227C>T, NM_015516.3:c.227C>T, NM_001318477.2:c.269C>T, NM_001318477.1:c.269C>T, NM_001318478.2:c.227C>T, NM_001318478.1:c.227C>T, NM_001258210.2:c.227C>T, NM_001258210.1:c.227C>T, NM_001318479.2:c.227C>T, NM_001318479.1:c.227C>T, XM_047426726.1:c.227C>T, NP_056331.2:p.Ser76Leu, NP_001305406.1:p.Ser90Leu, NP_001305407.1:p.Ser76Leu, NP_001245139.1:p.Ser76Leu, NP_001305408.1:p.Ser76Leu, XP_047282682.1:p.Ser76Leu

Select item 14820055397.

rs1482005539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:76795687 (GRCh38)
11:76506731 (GRCh37)
Canonical SPDI:: NC_000011.10:76795686:G:A
Gene:: TSKU (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.76795687G>A, NC_000011.9:g.76506731G>A, NM_015516.4:c.71G>A, NM_015516.3:c.71G>A, NM_001318477.2:c.113G>A, NM_001318477.1:c.113G>A, NM_001318478.2:c.71G>A, NM_001318478.1:c.71G>A, NM_001258210.2:c.71G>A, NM_001258210.1:c.71G>A, NM_001318479.2:c.71G>A, NM_001318479.1:c.71G>A, XM_047426726.1:c.71G>A, NP_056331.2:p.Cys24Tyr, NP_001305406.1:p.Cys38Tyr, NP_001305407.1:p.Cys24Tyr, NP_001245139.1:p.Cys24Tyr, NP_001305408.1:p.Cys24Tyr, XP_047282682.1:p.Cys24Tyr

Select item 14812409178.

rs1481240917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:76796597 (GRCh38)
11:76507641 (GRCh37)
Canonical SPDI:: NC_000011.10:76796596:G:C
Gene:: TSKU (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.76796597G>C, NC_000011.9:g.76507641G>C, NM_015516.4:c.981G>C, NM_015516.3:c.981G>C, NM_001318477.2:c.1023G>C, NM_001318477.1:c.1023G>C, NM_001318478.2:c.981G>C, NM_001318478.1:c.981G>C, NM_001258210.2:c.981G>C, NM_001258210.1:c.981G>C, NM_001318479.2:c.981G>C, NM_001318479.1:c.981G>C, XM_047426726.1:c.981G>C

Select item 14780092019.

rs1478009201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:76795986 (GRCh38)
11:76507030 (GRCh37)
Canonical SPDI:: NC_000011.10:76795985:C:A
Gene:: TSKU (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.76795986C>A, NC_000011.9:g.76507030C>A, NM_015516.4:c.370C>A, NM_015516.3:c.370C>A, NM_001318477.2:c.412C>A, NM_001318477.1:c.412C>A, NM_001318478.2:c.370C>A, NM_001318478.1:c.370C>A, NM_001258210.2:c.370C>A, NM_001258210.1:c.370C>A, NM_001318479.2:c.370C>A, NM_001318479.1:c.370C>A, XM_047426726.1:c.370C>A, NP_056331.2:p.Pro124Thr, NP_001305406.1:p.Pro138Thr, NP_001305407.1:p.Pro124Thr, NP_001245139.1:p.Pro124Thr, NP_001305408.1:p.Pro124Thr, XP_047282682.1:p.Pro124Thr

Select item 147584232110.

rs1475842321 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:76796217 (GRCh38)
11:76507261 (GRCh37)
Canonical SPDI:: NC_000011.10:76796216:A:G
Gene:: TSKU (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.76796217A>G, NC_000011.9:g.76507261A>G, NM_015516.4:c.601A>G, NM_015516.3:c.601A>G, NM_001318477.2:c.643A>G, NM_001318477.1:c.643A>G, NM_001318478.2:c.601A>G, NM_001318478.1:c.601A>G, NM_001258210.2:c.601A>G, NM_001258210.1:c.601A>G, NM_001318479.2:c.601A>G, NM_001318479.1:c.601A>G, XM_047426726.1:c.601A>G, NP_056331.2:p.Asn201Asp, NP_001305406.1:p.Asn215Asp, NP_001305407.1:p.Asn201Asp, NP_001245139.1:p.Asn201Asp, NP_001305408.1:p.Asn201Asp, XP_047282682.1:p.Asn201Asp

Select item 147157278511.

rs1471572785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:76795755 (GRCh38)
11:76506799 (GRCh37)
Canonical SPDI:: NC_000011.10:76795754:C:T
Gene:: TSKU (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.76795755C>T, NC_000011.9:g.76506799C>T, NM_015516.4:c.139C>T, NM_015516.3:c.139C>T, NM_001318477.2:c.181C>T, NM_001318477.1:c.181C>T, NM_001318478.2:c.139C>T, NM_001318478.1:c.139C>T, NM_001258210.2:c.139C>T, NM_001258210.1:c.139C>T, NM_001318479.2:c.139C>T, NM_001318479.1:c.139C>T, XM_047426726.1:c.139C>T

Select item 147122682512.

rs1471226825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:76796249 (GRCh38)
11:76507293 (GRCh37)
Canonical SPDI:: NC_000011.10:76796248:C:G
Gene:: TSKU (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.76796249C>G, NC_000011.9:g.76507293C>G, NM_015516.4:c.633C>G, NM_015516.3:c.633C>G, NM_001318477.2:c.675C>G, NM_001318477.1:c.675C>G, NM_001318478.2:c.633C>G, NM_001318478.1:c.633C>G, NM_001258210.2:c.633C>G, NM_001258210.1:c.633C>G, NM_001318479.2:c.633C>G, NM_001318479.1:c.633C>G, XM_047426726.1:c.633C>G, NP_056331.2:p.Ser211Arg, NP_001305406.1:p.Ser225Arg, NP_001305407.1:p.Ser211Arg, NP_001245139.1:p.Ser211Arg, NP_001305408.1:p.Ser211Arg, XP_047282682.1:p.Ser211Arg

Select item 147049757813.

rs1470497578 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:76796235 (GRCh38)
11:76507280 (GRCh37)
Canonical SPDI:: NC_000011.10:76796235:T:TT
Gene:: TSKU (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.76796236dup, NC_000011.9:g.76507280dup, NM_015516.4:c.620dup, NM_015516.3:c.620dup, NM_001318477.2:c.662dup, NM_001318477.1:c.662dup, NM_001318478.2:c.620dup, NM_001318478.1:c.620dup, NM_001258210.2:c.620dup, NM_001258210.1:c.620dup, NM_001318479.2:c.620dup, NM_001318479.1:c.620dup, XM_047426726.1:c.620dup, NP_056331.2:p.Arg208fs, NP_001305406.1:p.Arg222fs, NP_001305407.1:p.Arg208fs, NP_001245139.1:p.Arg208fs, NP_001305408.1:p.Arg208fs, XP_047282682.1:p.Arg208fs

Select item 146534541514.

rs1465345415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:76795658 (GRCh38)
11:76506702 (GRCh37)
Canonical SPDI:: NC_000011.10:76795657:C:T
Gene:: TSKU (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000011.10:g.76795658C>T, NC_000011.9:g.76506702C>T, NM_015516.4:c.42C>T, NM_015516.3:c.42C>T, NM_001318477.2:c.84C>T, NM_001318477.1:c.84C>T, NM_001318478.2:c.42C>T, NM_001318478.1:c.42C>T, NM_001258210.2:c.42C>T, NM_001258210.1:c.42C>T, NM_001318479.2:c.42C>T, NM_001318479.1:c.42C>T, XM_047426726.1:c.42C>T

Select item 146526055015.

rs1465260550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:76796269 (GRCh38)
11:76507313 (GRCh37)
Canonical SPDI:: NC_000011.10:76796268:C:T
Gene:: TSKU (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.76796269C>T, NC_000011.9:g.76507313C>T, NM_015516.4:c.653C>T, NM_015516.3:c.653C>T, NM_001318477.2:c.695C>T, NM_001318477.1:c.695C>T, NM_001318478.2:c.653C>T, NM_001318478.1:c.653C>T, NM_001258210.2:c.653C>T, NM_001258210.1:c.653C>T, NM_001318479.2:c.653C>T, NM_001318479.1:c.653C>T, XM_047426726.1:c.653C>T, NP_056331.2:p.Ala218Val, NP_001305406.1:p.Ala232Val, NP_001305407.1:p.Ala218Val, NP_001245139.1:p.Ala218Val, NP_001305408.1:p.Ala218Val, XP_047282682.1:p.Ala218Val

Select item 146322840816.

rs1463228408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:76796085 (GRCh38)
11:76507129 (GRCh37)
Canonical SPDI:: NC_000011.10:76796084:G:A
Gene:: TSKU (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.76796085G>A, NC_000011.9:g.76507129G>A, NM_015516.4:c.469G>A, NM_015516.3:c.469G>A, NM_001318477.2:c.511G>A, NM_001318477.1:c.511G>A, NM_001318478.2:c.469G>A, NM_001318478.1:c.469G>A, NM_001258210.2:c.469G>A, NM_001258210.1:c.469G>A, NM_001318479.2:c.469G>A, NM_001318479.1:c.469G>A, XM_047426726.1:c.469G>A, NP_056331.2:p.Gly157Ser, NP_001305406.1:p.Gly171Ser, NP_001305407.1:p.Gly157Ser, NP_001245139.1:p.Gly157Ser, NP_001305408.1:p.Gly157Ser, XP_047282682.1:p.Gly157Ser

Select item 146278925417.

rs1462789254 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:76796544 (GRCh38)
11:76507588 (GRCh37)
Canonical SPDI:: NC_000011.10:76796543:G:A
Gene:: TSKU (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.76796544G>A, NC_000011.9:g.76507588G>A, NM_015516.4:c.928G>A, NM_015516.3:c.928G>A, NM_001318477.2:c.970G>A, NM_001318477.1:c.970G>A, NM_001318478.2:c.928G>A, NM_001318478.1:c.928G>A, NM_001258210.2:c.928G>A, NM_001258210.1:c.928G>A, NM_001318479.2:c.928G>A, NM_001318479.1:c.928G>A, XM_047426726.1:c.928G>A, NP_056331.2:p.Val310Met, NP_001305406.1:p.Val324Met, NP_001305407.1:p.Val310Met, NP_001245139.1:p.Val310Met, NP_001305408.1:p.Val310Met, XP_047282682.1:p.Val310Met

Select item 146144243018.

rs1461442430 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:76796227 (GRCh38)
11:76507271 (GRCh37)
Canonical SPDI:: NC_000011.10:76796226:A:T
Gene:: TSKU (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.76796227A>T, NC_000011.9:g.76507271A>T, NM_015516.4:c.611A>T, NM_015516.3:c.611A>T, NM_001318477.2:c.653A>T, NM_001318477.1:c.653A>T, NM_001318478.2:c.611A>T, NM_001318478.1:c.611A>T, NM_001258210.2:c.611A>T, NM_001258210.1:c.611A>T, NM_001318479.2:c.611A>T, NM_001318479.1:c.611A>T, XM_047426726.1:c.611A>T, NP_056331.2:p.Asp204Val, NP_001305406.1:p.Asp218Val, NP_001305407.1:p.Asp204Val, NP_001245139.1:p.Asp204Val, NP_001305408.1:p.Asp204Val, XP_047282682.1:p.Asp204Val

Select item 145656430619.

rs1456564306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:76795978 (GRCh38)
11:76507022 (GRCh37)
Canonical SPDI:: NC_000011.10:76795977:C:T
Gene:: TSKU (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.76795978C>T, NC_000011.9:g.76507022C>T, NM_015516.4:c.362C>T, NM_015516.3:c.362C>T, NM_001318477.2:c.404C>T, NM_001318477.1:c.404C>T, NM_001318478.2:c.362C>T, NM_001318478.1:c.362C>T, NM_001258210.2:c.362C>T, NM_001258210.1:c.362C>T, NM_001318479.2:c.362C>T, NM_001318479.1:c.362C>T, XM_047426726.1:c.362C>T, NP_056331.2:p.Thr121Ile, NP_001305406.1:p.Thr135Ile, NP_001305407.1:p.Thr121Ile, NP_001245139.1:p.Thr121Ile, NP_001305408.1:p.Thr121Ile, XP_047282682.1:p.Thr121Ile

Select item 145271007220.

rs1452710072 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 11:76796658 (GRCh38)
11:76507702 (GRCh37)
Canonical SPDI:: NC_000011.10:76796657:A:
Gene:: TSKU (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.76796658del, NC_000011.9:g.76507702del, NM_015516.4:c.1042del, NM_015516.3:c.1042del, NM_001318477.2:c.1084del, NM_001318477.1:c.1084del, NM_001318478.2:c.1042del, NM_001318478.1:c.1042del, NM_001258210.2:c.1042del, NM_001258210.1:c.1042del, NM_001318479.2:c.1042del, NM_001318479.1:c.1042del, XM_047426726.1:c.1042del, NP_056331.2:p.Arg348fs, NP_001305406.1:p.Arg362fs, NP_001305407.1:p.Arg348fs, NP_001245139.1:p.Arg348fs, NP_001305408.1:p.Arg348fs, XP_047282682.1:p.Arg348fs

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