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NM_000165.5(GJA1):c.65G>A (p.Gly22Glu)

Variation ID: Help
16985
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Mar 12, 2018
Number of submission(s):
2
Condition(s):
  • Oculodentodigital dysplasia, autosomal recessive [MedGen - OMIM]
  • Oculodentodigital dysplasia [MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000165.5(GJA1):c.65G>A (p.Gly22Glu)

Allele ID:
32024
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.3
Genomic location:
  • Chr6: 121446912 (on Assembly GRCh38)
  • Chr6: 121768058 (on Assembly GRCh37)
Protein change:
G22E
HGVS:
  • NG_008308.1:g.16314G>A
  • NM_000165.5:c.65G>A
  • NP_000156.1:p.Gly22Glu
  • NC_000006.12:g.121446912G>A (GRCh38)
  • NC_000006.11:g.121768058G>A (GRCh37)
  • NM_000165.3:c.65G>A
  • NM_000165.4:c.65G>A
  • P17302:p.Gly22Glu
Links:
NCBI 1000 Genomes Browser:
rs104893964
Molecular consequence:
NM_000165.5:c.65G>A: 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
Uncertain significance
(Mar 12, 2018)
criteria provided, single submitter
clinical testing
  • Oculodentodigital dysplasia, autosomal recessive[MedGen | OMIM]
germlineInvitaeSCV000819162.1
Pathogenic
(Feb 1, 2003)
no assertion criteria providedliterature onlygermlineOMIMSCV000038788.4
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermlinenot providednot provided
Invitaenot providednot providedgermlinenot providednot providedThis sequence change replaces …Full description
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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