NM_000166.6(GJB1):c.37G>A (p.Val13Met) AND not provided

Clinical significance:Likely benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001027489.1

Allele description [Variation Report for NM_000166.6(GJB1):c.37G>A (p.Val13Met)]

NM_000166.6(GJB1):c.37G>A (p.Val13Met)

Gene:
GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_000166.6(GJB1):c.37G>A (p.Val13Met)
HGVS:
  • NC_000023.11:g.71223744G>A
  • NG_008357.1:g.13533G>A
  • NM_000166.6:c.37G>AMANE SELECT
  • NM_001097642.3:c.37G>A
  • NP_000157.1:p.Val13Met
  • NP_001091111.1:p.Val13Met
  • LRG_245t2:c.37G>A
  • LRG_245:g.13533G>A
  • LRG_245p2:p.Val13Met
  • NC_000023.10:g.70443594G>A
  • NM_000166.5:c.37G>A
Protein change:
V13M
Links:
dbSNP: rs104894820
NCBI 1000 Genomes Browser:
rs104894820
Molecular consequence:
  • NM_000166.6:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001190064Inherited Neuropathy Consortiumno assertion criteria providedLikely benigninheritedprovider interpretation

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From Inherited Neuropathy Consortium, SCV001190064.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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