MFMD

Search

Browse the database

By Disease
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

By Gene
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: Hypotrichosis 4

OMIM: 146550
Inheritance: Autosomal dominant
Classification: Congenital malformations, deformations and chromosomal abnormalities

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

HR || c.2T>A

Gene/Locus:	HR
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)

Phenotype: Hypotrichosis 4

References