NM_005360.5(MAF):c.433G>A (p.Gly145Ser) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003771801.1
Allele description [Variation Report for NM_005360.5(MAF):c.433G>A (p.Gly145Ser)]
NM_005360.5(MAF):c.433G>A (p.Gly145Ser)
Condition(s)
- Name:
- Cataract 21 multiple types
- Synonyms:
- Cataract, pulverulent, juvenile-onset; CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA; CATARACT 21, CERULEAN, WITH OR WITHOUT MICROCORNEA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012437; MedGen: C1857768; Orphanet: 91492; OMIM: 610202
Assertion and evidence details
Last Updated: Apr 15, 2024