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Last update

21/6/2017

Gene: hair growth associated; HR

Gene Symbol: HR
OMIM: 602302
Chromosome location: 8p21.3

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Hypotrichosis 4 || c.2T>A

Phenotype:	Hypotrichosis 4
Dna Change:	c.2T>A
Protein Change:	p.M1K
Mutation Type:	Substitution
Mutation Effect:
Location:	exon 2
Transcript:	NM_005144.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Turkey	NA	NA	3 patients/3 Unrelated families	NA	Düzenli S et al., 2009Düzenli S, Redler S, Müller M, Polat M, Dogruer D, Pasternack SM, Betz RC, . Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis.. Clin. Exp. Dermatol.. 2009; 34(8):e953-6

References

Düzenli S, Redler S, Müller M, Polat M, Dogruer D, Pasternack SM, Betz RC, Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis.Clin. Exp. Dermatol.. 2009; 34(8):e953-6

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: hair growth associated; HR

References