NM_000522.5(HOXA13):c.1114A>C (p.Asn372His) AND Hand-foot-genital syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 1, 2000
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000016021.23
Allele description [Variation Report for NM_000522.5(HOXA13):c.1114A>C (p.Asn372His)]
NM_000522.5(HOXA13):c.1114A>C (p.Asn372His)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022