NM_000372.5(TYR):c.346C>T (p.Arg116Ter) AND SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003467007.2
Allele description [Variation Report for NM_000372.5(TYR):c.346C>T (p.Arg116Ter)]
NM_000372.5(TYR):c.346C>T (p.Arg116Ter)
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
-
TUSC3 [Apteryx rowi]
TUSC3 [Apteryx rowi]Gene ID:112976357Gene
-
MGAT3 [Otolemur garnettii]
MGAT3 [Otolemur garnettii]Gene ID:100942451Gene
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024