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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]

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Last update

21/6/2017

Phenotype: Deafness, autosomal recessive 6

OMIM: 600971
Inheritance: Autosomal recessive
Classification: Diseases of the ear and mastoid process

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

TMIE || c.250C>T

Gene/Locus:	TMIE
Dna Change:	c.250C>T
Protein Change:	p.Arg84Trp
Mutation Type:	Sequence repeat
Mutation Effect:	Missense
Location:	exon 3
Transcript:	NM_147196.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Turkey	NA	NA	2.4%	1250 years ago	Sirmaci A et al., 2009Sirmaci A, Oztürkmen-Akay H, Erbek S, Incesulu A, Duman D, Taşir-Yilmaz S, Ozdağ H, Tekin M, . A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.. Clin. Genet.. 2009; 75(6):562-7

References

Sirmaci A, Oztürkmen-Akay H, Erbek S, Incesulu A, Duman D, Taşir-Yilmaz S, Ozdağ H, Tekin M, A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.Clin. Genet.. 2009; 75(6):562-7

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Deafness, autosomal recessive 6

References