NM_001252024.2(TRPM1):c.1305_1324del (p.Glu436fs) AND Congenital stationary night blindness 1C
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002291126.2
Allele description [Variation Report for NM_001252024.2(TRPM1):c.1305_1324del (p.Glu436fs)]
NM_001252024.2(TRPM1):c.1305_1324del (p.Glu436fs)
Condition(s)
Assertion and evidence details
Last Updated: Nov 5, 2022