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NM_000165.5(GJA1):c.31C>T (p.Leu11Phe)

Variation ID: Help
29668
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jun 1, 2011
Number of submission(s):
1
Condition(s):
Oculodentodigital dysplasia[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000165.5(GJA1):c.31C>T (p.Leu11Phe)

Allele ID:
38623
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.3
Genomic location:
  • Chr6: 121446878 (on Assembly GRCh38)
  • Chr6: 121768024 (on Assembly GRCh37)
Protein change:
L11F
HGVS:
  • NG_008308.1:g.16280C>T
  • NM_000165.5:c.31C>T
  • NP_000156.1:p.Leu11Phe
  • NC_000006.12:g.121446878C>T (GRCh38)
  • NC_000006.11:g.121768024C>T (GRCh37)
  • NM_000165.3:c.31C>T
Links:
NCBI 1000 Genomes Browser:
rs387906616
Molecular consequence:
NM_000165.5:c.31C>T: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jun 1, 2011)
no assertion criteria providedliterature onlygermlineOMIMSCV000043806.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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