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NM_001563.4(IMPG1):c.807+1G>T AND Macular dystrophy, vitelliform, 4

Significance: Pathogenic
ClinVar: RCV000149548

Variant: NM_001563.4(IMPG1):c.807+1G>T

Type: Variant
Allele: NM_001563.4(IMPG1):c.807+1G>T 171849
Gene:
Type: single nucleotide variant
Location: Chr6: 76018717 - assembly GRCh38
Chr6: 76728434 - assembly GRCh37
References: dbSNP: 713993046
OMIM: 602870.0004

Condition

Disease: Macular dystrophy, vitelliform, 4

Citation

    In a brother and sister from a consanguineous Italian family with vitelliform macular dystrophy (VMD4; 616151), Manes et al. (2013) identified homozygosity for a c.807+1G-T transversion in intron 7 of the IMPG1 gene. The mutation was not found in public SNP databases. The homozygous sibs exhibited macular as well as additional multifocal vitelliform deposits. Fundus examination of their asymptomatic parents, who were heterozygous for the mutation, revealed tiny extramacular vitelliform deposits in both.
PMID:23993198