NM_000372.5(TYR):c.715C>T (p.Arg239Trp) AND SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 8, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003470908.2
Allele description [Variation Report for NM_000372.5(TYR):c.715C>T (p.Arg239Trp)]
NM_000372.5(TYR):c.715C>T (p.Arg239Trp)
Condition(s)
- Name:
- SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN (SHEP3)
- Synonyms:
- EYE COLOR 1; EYE COLOR, GREEN/BLUE; SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYE COLOR; See all synonyms [MedGen]
- Identifiers:
- MedGen: C2677190; OMIM: 601800
-
RING/FYVE/PHD zinc finger superfamily protein [Arabidopsis thaliana]
RING/FYVE/PHD zinc finger superfamily protein [Arabidopsis thaliana]Gene ID:837915Gene
-
837915[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Sep 29, 2024