NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs) AND Retinitis pigmentosa 38
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001376396.1
Allele description [Variation Report for NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs)]
NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs)
Condition(s)
-
Mus musculus trafficking protein particle complex 9 (Trappc9), transcript varian...
Mus musculus trafficking protein particle complex 9 (Trappc9), transcript variant 1, mRNAgi|257467576|ref|NM_029640.2|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jun 23, 2024