NM_000165.5(GJA1):c.154_156dup (p.Phe52dup) AND Oculodentodigital dysplasia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2003
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000018507.25
Allele description [Variation Report for NM_000165.5(GJA1):c.154_156dup (p.Phe52dup)]
NM_000165.5(GJA1):c.154_156dup (p.Phe52dup)
Condition(s)
-
Slc4a1 solute carrier family 4 (anion exchanger), member 1 [Mus musculus]
Slc4a1 solute carrier family 4 (anion exchanger), member 1 [Mus musculus]Gene ID:20533Gene
-
20533[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Apr 23, 2022