NM_001692.4(ATP6V1B1):c.175-1G>C AND ATP6V1B1-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003413587.4
Allele description [Variation Report for NM_001692.4(ATP6V1B1):c.175-1G>C]
NM_001692.4(ATP6V1B1):c.175-1G>C
Condition(s)
- Name:
- ATP6V1B1-related disorder
- Synonyms:
- ATP6V1B1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024