NM_005360.5(MAF):c.611G>T (p.Gly204Val) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000556258.9
Allele description [Variation Report for NM_005360.5(MAF):c.611G>T (p.Gly204Val)]
NM_005360.5(MAF):c.611G>T (p.Gly204Val)
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
-
hd18c05.y1 Human Retina cDNA (Un-normalized, unamplified): hd/he Homo sapiens cD...
hd18c05.y1 Human Retina cDNA (Un-normalized, unamplified): hd/he Homo sapiens cDNA clone hd18c05 5', mRNA sequencegi|21762543|gnl|dbEST|12788145|gb|B 84.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024