NM_000883.4(IMPDH1):c.1057G>A (p.Val353Ile) AND Retinitis pigmentosa 10
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 1, 2002
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000015960.25
Allele description [Variation Report for NM_000883.4(IMPDH1):c.1057G>A (p.Val353Ile)]
NM_000883.4(IMPDH1):c.1057G>A (p.Val353Ile)
Condition(s)
Assertion and evidence details
Last Updated: Feb 7, 2023