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NM_000166.6(GJB1):c.545C>G (p.Ser182Cys)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 10, 2019)
Accession:
VCV000637628.1
Variation ID:
637628
Description:
single nucleotide variant
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NM_000166.6(GJB1):c.545C>G (p.Ser182Cys)

Allele ID
625661
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq13.1
Genomic location
X: 71224252 (GRCh38) GRCh38 UCSC
X: 70444102 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_245:g.14041C>G
LRG_245t2:c.545C>G LRG_245p2:p.Ser182Cys
NC_000023.10:g.70444102C>G
... more HGVS
Protein change
S182C
Other names
-
Canonical SPDI
NC_000023.11:71224251:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1602349631
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided - RCV000789890.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GJB1 - - GRCh38
GRCh37
598 730

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Charcot-Marie-Tooth disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000929275.1
Submitted: (Jul 10, 2019)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease. Mandich P Journal of human genetics 2008 PMID: 18379723

Text-mined citations for rs1602349631...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021