SNP Links for Protein (Select 4758770) - SNP

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Links from Protein

Items: 1 to 20 of 43

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Select item 14628931791.

rs1462893179 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAAAAGGGTTGCTCATTTTGGG [Show Flanks]
Chromosome:: X:119872012 (GRCh38)
X:119005976 (GRCh37)
Canonical SPDI:: NC_000023.11:119872012:GG:GGAAAAAAGGGTTGCTCATTTTGGG
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,splice_donor_variant
HGVS:: NC_000023.11:g.119872014_119872015insAAAAAAGGGTTGCTCATTTTGGG, NC_000023.10:g.119005977_119005978insAAAAAAGGGTTGCTCATTTTGGG, NG_009381.1:g.5244_5245insAAAAAAGGGTTGCTCATTTTGGG, NG_021227.1:g.4816_4817insCAAAATGAGCAACCCTTTTTTCC

Select item 14515543102.

rs1451554310 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:119871924 (GRCh38)
X:119005887 (GRCh37)
Canonical SPDI:: NC_000023.11:119871923:A:G
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119871924A>G, NC_000023.10:g.119005887A>G, NG_009381.1:g.5154A>G, NM_004541.4:c.13A>G, NM_004541.3:c.13A>G, NG_021227.1:g.4905T>C, NP_004532.1:p.Ile5Val

Select item 14308983773.

rs1430898377 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:119873306 (GRCh38)
X:119007269 (GRCh37)
Canonical SPDI:: NC_000023.11:119873305:A:G
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119873306A>G, NC_000023.10:g.119007269A>G, NG_009381.1:g.6536A>G, NM_004541.4:c.105A>G, NM_004541.3:c.105A>G, NG_021227.1:g.3523T>C

Select item 14300357934.

rs1430035793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119876525 (GRCh38)
X:119010488 (GRCh37)
Canonical SPDI:: NC_000023.11:119876524:C:T
Gene:: NDUFA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119876525C>T, NC_000023.10:g.119010488C>T, NG_009381.1:g.9755C>T, NM_004541.4:c.204C>T, NM_004541.3:c.204C>T, NG_021227.1:g.304G>A

Select item 14227996355.

rs1422799635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119873360 (GRCh38)
X:119007323 (GRCh37)
Canonical SPDI:: NC_000023.11:119873359:C:T
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.119873360C>T, NC_000023.10:g.119007323C>T, NG_009381.1:g.6590C>T, NM_004541.4:c.159C>T, NM_004541.3:c.159C>T, NG_021227.1:g.3469G>A

Select item 14198124046.

rs1419812404 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:119876524 (GRCh38)
X:119010487 (GRCh37)
Canonical SPDI:: NC_000023.11:119876523:A:G
Gene:: NDUFA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119876524A>G, NC_000023.10:g.119010487A>G, NG_009381.1:g.9754A>G, NM_004541.4:c.203A>G, NM_004541.3:c.203A>G, NG_021227.1:g.305T>C, NP_004532.1:p.Asn68Ser

Select item 14052558877.

rs1405255887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119871941 (GRCh38)
X:119005904 (GRCh37)
Canonical SPDI:: NC_000023.11:119871940:C:T
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.119871941C>T, NC_000023.10:g.119005904C>T, NG_009381.1:g.5171C>T, NM_004541.4:c.30C>T, NM_004541.3:c.30C>T, NG_021227.1:g.4888G>A

Select item 13678304178.

rs1367830417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119871927 (GRCh38)
X:119005890 (GRCh37)
Canonical SPDI:: NC_000023.11:119871926:C:T
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.119871927C>T, NC_000023.10:g.119005890C>T, NG_009381.1:g.5157C>T, NM_004541.4:c.16C>T, NM_004541.3:c.16C>T, NG_021227.1:g.4902G>A, NP_004532.1:p.Leu6Phe

Select item 13476228069.

rs1347622806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119873381 (GRCh38)
X:119007344 (GRCh37)
Canonical SPDI:: NC_000023.11:119873380:C:T
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119873381C>T, NC_000023.10:g.119007344C>T, NG_009381.1:g.6611C>T, NM_004541.4:c.180C>T, NM_004541.3:c.180C>T, NG_021227.1:g.3448G>A

Select item 130099088310.

rs1300990883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119871986 (GRCh38)
X:119005949 (GRCh37)
Canonical SPDI:: NC_000023.11:119871985:C:T
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/1 (GnomAD)
HGVS:: NC_000023.11:g.119871986C>T, NC_000023.10:g.119005949C>T, NG_009381.1:g.5216C>T, NM_004541.4:c.75C>T, NM_004541.3:c.75C>T, NG_021227.1:g.4843G>A

Select item 125773470211.

rs1257734702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119873358 (GRCh38)
X:119007321 (GRCh37)
Canonical SPDI:: NC_000023.11:119873357:C:T
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.119873358C>T, NC_000023.10:g.119007321C>T, NG_009381.1:g.6588C>T, NM_004541.4:c.157C>T, NM_004541.3:c.157C>T, NG_021227.1:g.3471G>A, NP_004532.1:p.Arg53Cys

Select item 124410333712.

rs1244103337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119872009 (GRCh38)
X:119005972 (GRCh37)
Canonical SPDI:: NC_000023.11:119872008:G:A
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.119872009G>A, NC_000023.10:g.119005972G>A, NG_009381.1:g.5239G>A, NM_004541.4:c.98G>A, NM_004541.3:c.98G>A, NG_021227.1:g.4820C>T, NP_004532.1:p.Gly33Asp

Select item 122172420413.

rs1221724204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119872004 (GRCh38)
X:119005967 (GRCh37)
Canonical SPDI:: NC_000023.11:119872003:C:T
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.119872004C>T, NC_000023.10:g.119005967C>T, NG_009381.1:g.5234C>T, NM_004541.4:c.93C>T, NM_004541.3:c.93C>T, NG_021227.1:g.4825G>A

Select item 121364012714.

rs1213640127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119871995 (GRCh38)
X:119005958 (GRCh37)
Canonical SPDI:: NC_000023.11:119871994:G:A
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.119871995G>A, NC_000023.10:g.119005958G>A, NG_009381.1:g.5225G>A, NM_004541.4:c.84G>A, NM_004541.3:c.84G>A, NG_021227.1:g.4834C>T

Select item 120269291115.

rs1202692911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119873359 (GRCh38)
X:119007322 (GRCh37)
Canonical SPDI:: NC_000023.11:119873358:G:A
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.119873359G>A, NC_000023.10:g.119007322G>A, NG_009381.1:g.6589G>A, NM_004541.4:c.158G>A, NM_004541.3:c.158G>A, NG_021227.1:g.3470C>T, NP_004532.1:p.Arg53His

Select item 117412189116.

rs1174121891 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:119873371 (GRCh38)
X:119007334 (GRCh37)
Canonical SPDI:: NC_000023.11:119873370:T:G
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.119873371T>G, NC_000023.10:g.119007334T>G, NG_009381.1:g.6601T>G, NM_004541.4:c.170T>G, NM_004541.3:c.170T>G, NG_021227.1:g.3458A>C, NP_004532.1:p.Val57Gly

Select item 116947879517.

rs1169478795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119873327 (GRCh38)
X:119007290 (GRCh37)
Canonical SPDI:: NC_000023.11:119873326:G:A
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.119873327G>A, NC_000023.10:g.119007290G>A, NG_009381.1:g.6557G>A, NM_004541.4:c.126G>A, NM_004541.3:c.126G>A, NG_021227.1:g.3502C>T

Select item 116484751918.

rs1164847519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119871932 (GRCh38)
X:119005895 (GRCh37)
Canonical SPDI:: NC_000023.11:119871931:C:T
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.119871932C>T, NC_000023.10:g.119005895C>T, NG_009381.1:g.5162C>T, NM_004541.4:c.21C>T, NM_004541.3:c.21C>T, NG_021227.1:g.4897G>A

Select item 98257914819.

rs982579148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:119871989 (GRCh38)
X:119005952 (GRCh37)
Canonical SPDI:: NC_000023.11:119871988:C:A
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.119871989C>A, NC_000023.10:g.119005952C>A, NG_009381.1:g.5219C>A, NM_004541.4:c.78C>A, NM_004541.3:c.78C>A, NG_021227.1:g.4840G>T

Select item 91775420120.

rs917754201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119872001 (GRCh38)
X:119005964 (GRCh37)
Canonical SPDI:: NC_000023.11:119872000:T:C
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.119872001T>C, NC_000023.10:g.119005964T>C, NG_009381.1:g.5231T>C, NM_004541.4:c.90T>C, NM_004541.3:c.90T>C, NG_021227.1:g.4828A>G

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