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NM_001563.4(IMPG1):c.461T>C (p.Leu154Pro) AND Macular dystrophy, vitelliform, 4

Significance: Pathogenic
ClinVar: RCV000149550

Variant: NM_001563.4(IMPG1):c.461T>C (p.Leu154Pro)

Type: Variant
Allele: NM_001563.4(IMPG1):c.461T>C (p.Leu154Pro) 171851
Gene:
Type: single nucleotide variant
Location: Chr6: 76034628 - assembly GRCh38
Chr6: 76744345 - assembly GRCh37
References: dbSNP: 713993047
OMIM: 602870.0003
UniProtKB: Q17R60#VAR_072668

Condition

Disease: Macular dystrophy, vitelliform, 4

Citation

    For discussion of the leu154-to-pro (L154P) mutation in the IMPG1 gene that was found in compound heterozygous state in patients with vitelliform macular dystrophy (VMD4; 616151) by Manes et al. (2013), see 602870.0002.
PMID:23993198