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MELANESIAN BLOND HAIR(SHEP11)

MedGen UID:
436856
•Concept ID:
C2677086
•
Finding
Synonyms: SHEP11; SKIN/HAIR/EYE PIGMENTATION 11, BLUE/NONBLUE EYES; Skin/hair/eye pigmentation, variation in, 11
 
Gene (location): TYRP1 (9p23)
 
OMIM®: 612271

Recent clinical studies

Prognosis

Melanesian blond hair is caused by an amino acid change in TYRP1.
Kenny EE, Timpson NJ, Sikora M, Yee MC, Moreno-Estrada A, Eng C, Huntsman S, Burchard EG, Stoneking M, Bustamante CD, Myles S
Science 2012 May 4;336(6081):554. doi: 10.1126/science.1217849. PMID: 22556244Free PMC Article

Clinical prediction guides

The rs387907171 SNP in TYRP1 is not associated with blond hair color on the Island of Bougainville.
Norton HL, Hanna M, Werren E, Friedlaender J
Am J Hum Biol 2016 May;28(3):431-5. Epub 2015 Oct 9 doi: 10.1002/ajhb.22795. PMID: 26450459
Melanesian blond hair is caused by an amino acid change in TYRP1.
Kenny EE, Timpson NJ, Sikora M, Yee MC, Moreno-Estrada A, Eng C, Huntsman S, Burchard EG, Stoneking M, Bustamante CD, Myles S
Science 2012 May 4;336(6081):554. doi: 10.1126/science.1217849. PMID: 22556244Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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