NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) AND Retinitis pigmentosa 13
- Germline classification:
- Likely 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:
- RCV001376216.2
Allele description [Variation Report for NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs)]
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs)
Condition(s)
-
Cpgi12438 AND (alive[prop]) (0)
Gene
-
protein transport protein Sec24A isoform X1 [Homo sapiens]
protein transport protein Sec24A isoform X1 [Homo sapiens]gi|1034643326|ref|XP_016864450.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 8, 2024