Cryptorchidism

OMIM:219050
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities

Mutations

Gene Symbol	INSL3
Reference transcript	NM_005543.3
DNA Change	c.-19C>G
A.A. Change
Exon/Intron
Mutation Type	substitution
Reference	El Houate B, Rouba H, Sibai H, Barakat A, Chafik A, Chadli el B, Imken L, Bogatcheva NV, Feng S, Agoulnik AI, McElreavey K.Novel mutations involving the INSL3 gene associated with cryptorchidism. J Urol. 2007 May;177(5):1947-51.

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Gene Symbol	INSL3
Reference transcript	NM_005543.3
DNA Change	c.52G>A
A.A. Change	p.Val18Met
Exon/Intron	exon 1
Mutation Type	substitution
Reference	El Houate B, Rouba H, Sibai H, Barakat A, Chafik A, Chadli el B, Imken L, Bogatcheva NV, Feng S, Agoulnik AI, McElreavey K.Novel mutations involving the INSL3 gene associated with cryptorchidism. J Urol. 2007 May;177(5):1947-51.

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Gene Symbol	INSL3
Reference transcript	NM_005543.3
DNA Change	c.314G>A
A.A. Change	p.Arg105His
Exon/Intron	exon 2
Mutation Type	substitution
Reference	El Houate B, Rouba H, Sibai H, Barakat A, Chafik A, Chadli el B, Imken L, Bogatcheva NV, Feng S, Agoulnik AI, McElreavey K.Novel mutations involving the INSL3 gene associated with cryptorchidism. J Urol. 2007 May;177(5):1947-51.

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