NM_001128840.3(CACNA1D):c.6326G>C (p.Gly2109Ala) AND Hearing impairment
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001375104.3
Allele description [Variation Report for NM_001128840.3(CACNA1D):c.6326G>C (p.Gly2109Ala)]
NM_001128840.3(CACNA1D):c.6326G>C (p.Gly2109Ala)
Condition(s)
- Name:
- Hearing impairment
- Identifiers:
- MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365
Assertion and evidence details
Last Updated: Apr 15, 2024