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NM_000165.5(GJA1):c.32T>C (p.Leu11Pro) AND Oculodentodigital dysplasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2006
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000018516.29

Allele description [Variation Report for NM_000165.5(GJA1):c.32T>C (p.Leu11Pro)]

NM_000165.5(GJA1):c.32T>C (p.Leu11Pro)

Gene:
GJA1:gap junction protein alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.31
Genomic location:
Preferred name:
NM_000165.5(GJA1):c.32T>C (p.Leu11Pro)
HGVS:
  • NC_000006.12:g.121446879T>C
  • NG_008308.1:g.16281T>C
  • NM_000165.5:c.32T>CMANE SELECT
  • NP_000156.1:p.Leu11Pro
  • LRG_1289t1:c.32T>C
  • LRG_1289:g.16281T>C
  • LRG_1289p1:p.Leu11Pro
  • NC_000006.11:g.121768025T>C
  • P17302:p.Leu11Pro
Protein change:
L11P; LEU11PRO
Links:
UniProtKB: P17302#VAR_058992; OMIM: 121014.0014; dbSNP: rs121912969
NCBI 1000 Genomes Browser:
rs121912969
Molecular consequence:
  • NM_000165.5:c.32T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Oculodentodigital dysplasia (ODDD)
Synonyms:
ODD syndrome; Oculodentodigital syndrome
Identifiers:
MONDO: MONDO:0008111; MedGen: C0812437; Orphanet: 2710; OMIM: 164200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038798OMIM
no assertion criteria provided
Pathogenic
(May 1, 2006) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis.

Kelly SC, Ratajczak P, Keller M, Purcell SM, Griffin T, Richard G.

Eur J Dermatol. 2006 May-Jun;16(3):241-5.

PubMed [citation]
PMID:
16709485

Details of each submission

From OMIM, SCV000038798.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Kelly et al. (2006) studied a 13-year-old girl with oculodentodigital dysplasia (ODDD; 164200), her unaffected parents, and 3 unaffected sibs. The patient had a beak-like nose with hypoplasia of the alae nasi, anteverted nostrils, and prominent columella. Microphthalmia, hypertelorism, and prominent medial epicanthal folds were present. Scalp hair was short with curly-kinky texture, and there was marked hypoplasia of the dental enamel with yellow-colored teeth. Discrete follicular hyperkeratosis was noted on the extensor surfaces of the extremities, as well as mild palmoplantar keratoderma. Kelly et al. (2006) demonstrated a heterozygous missense mutation of the GJA1 gene: a T-to-C transition at nucleotide 32, predicted to lead to a nonconservative replacement of leucine 11 (CTT) with a proline residue (CCT) in the cytoplasmic amino terminus of CX43.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022