NM_000165.5(GJA1):c.654G>A (p.Leu218=) AND Oculodentodigital dysplasia, autosomal recessive
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003518470.2
Allele description [Variation Report for NM_000165.5(GJA1):c.654G>A (p.Leu218=)]
NM_000165.5(GJA1):c.654G>A (p.Leu218=)
Condition(s)
-
LOW QUALITY PROTEIN: C-terminal-binding protein 2-like [Athene cunicularia]
LOW QUALITY PROTEIN: C-terminal-binding protein 2-like [Athene cunicularia]gi|1495915176|ref|XP_026713875.1|Protein
-
PRJNA634601 (24)
SRA
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Last Updated: Sep 29, 2024