INSL3
Gene name: insulin-like 3OMIM ID: 146738
Chromosome location: 19p13.11
Mutations
| Disease/Phenotype | Cryptorchidism |
|---|---|
| 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. |
| Disease/Phenotype | Cryptorchidism |
|---|---|
| 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. |
| Disease/Phenotype | Cryptorchidism |
|---|---|
| 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. |