NM_000372.5(TYR):c.607G>T (p.Glu203Ter) AND SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003466488.1
Allele description [Variation Report for NM_000372.5(TYR):c.607G>T (p.Glu203Ter)]
NM_000372.5(TYR):c.607G>T (p.Glu203Ter)
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
Assertion and evidence details
Last Updated: Feb 28, 2024