NM_201253.3(CRB1):c.1562C>T (p.Ala521Val) AND Retinitis pigmentosa
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 24, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001249877.1
Allele description [Variation Report for NM_201253.3(CRB1):c.1562C>T (p.Ala521Val)]
NM_201253.3(CRB1):c.1562C>T (p.Ala521Val)
Condition(s)
-
PARP2 poly(ADP-ribose) polymerase 2 [Homo sapiens]
PARP2 poly(ADP-ribose) polymerase 2 [Homo sapiens]Gene ID:10038Gene
-
Gene Links for GEO Profiles (Select 76509167) (1)
Gene
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Last Updated: Apr 23, 2022