NM_013275.6(ANKRD11):c.1948C>T (p.Gln650Ter) AND KBG syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000679907.2
Allele description [Variation Report for NM_013275.6(ANKRD11):c.1948C>T (p.Gln650Ter)]
NM_013275.6(ANKRD11):c.1948C>T (p.Gln650Ter)
Condition(s)
Assertion and evidence details
Last Updated: Dec 11, 2022