GENETIC ENCYCLOPEDIA
ABOUT US    

   

TULP1, IVS2DS, G-A, +1 AND Retinitis pigmentosa 14

Significance: Pathogenic
ClinVar: RCV000007785

Variant: TULP1, IVS2DS, G-A, +1

Type: Variant
Allele: TULP1, IVS2DS, G-A, +1 22399
Gene:
Type: single nucleotide variant
References: OMIM: 602280.0004

Condition

Disease: Retinitis pigmentosa 14

Citations

    In a patient of Italian origin from a multiplex family with Leber congenital amaurosis (LCA15; 613843), Hanein et al. (2004) identified compound heterozygosity for the IVS2+1G-A splice mutation gene (99+1G-A) and a nonsense mutation (E402X; 602280.0010) in the TULP1 gene.
PMID:15024725
    For discussion of the splice site mutation in the TULP1 gene (IVS2+1G-A) that was found in a patient with nonsyndromal retinitis pigmentosa (RP14; 600132) by Hagstrom et al. (1998), see 602280.0003.
PMID:9462750