NM_201253.3(CRB1):c.3386C>T (p.Ser1129Phe) AND Leber congenital amaurosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001835104.1
Allele description [Variation Report for NM_201253.3(CRB1):c.3386C>T (p.Ser1129Phe)]
NM_201253.3(CRB1):c.3386C>T (p.Ser1129Phe)
Condition(s)
-
Mus musculus serine-rich single-pass membrane protein 1 (Ssmem1), transcript var...
Mus musculus serine-rich single-pass membrane protein 1 (Ssmem1), transcript variant 1, mRNAgi|305855117|ref|NM_027073.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024