NM_020170.4(NCLN):c.496C>T (p.Gln166Ter) AND Hirschsprung disease, susceptibility to, 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 26, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000416337.1
Allele description [Variation Report for NM_020170.4(NCLN):c.496C>T (p.Gln166Ter)]
NM_020170.4(NCLN):c.496C>T (p.Gln166Ter)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022