NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg) AND Macular dystrophy, vitelliform, 4
| Significance: | Pathogenic |
|---|---|
| ClinVar: | RCV000149547 |
Variant: NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg) |
|
| Type: | Variant |
Allele: NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg) 171848 |
|
| Gene: | IMPG1 |
| Type: | single nucleotide variant |
| Location: |
Chr6: 76018812
- assembly
GRCh38 Chr6: 76728529 - assembly GRCh37 |
| References: | dbSNP:
713993045 OMIM: 602870.0001 UniProtKB: Q17R60#VAR_072669 |
Condition |
|
| Disease: | Macular dystrophy, vitelliform, 4 |
Citation |
|
|
In affected members from 3 multiplex families with autosomal dominant vitelliform macular dystrophy (VMD4; 616151), 2 French and 1 Spanish, Manes et al. (2013) identified heterozygosity for a c.713T-G transversion in exon 7 of the IMPG1 gene, resulting in a leu238-to-pro (L238P) substitution at a conserved residue in the start of the N-terminal SEA1 domain. The mutation segregated with disease in all 3 families and was not found in public SNP databases or in 114 ethnically matched controls. Haplotype analysis demonstrated that all affected individuals shared the same alleles of the 2 markers flanking IMPG1, D6S456 and D6S1589, indicating that the 3 families might be distantly related. PMID:23993198 |
|