NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala) AND Pigmented paravenous retinochoroidal atrophy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000275938.6
Allele description [Variation Report for NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala)]
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala)
Condition(s)
-
PREDICTED: Canis lupus familiaris forkhead box A2 (FOXA2), transcript variant X1...
PREDICTED: Canis lupus familiaris forkhead box A2 (FOXA2), transcript variant X1, mRNAgi|1952718732|ref|XM_542865.7|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024