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NM_152281.2(GORAB):c.737+5G>C AND Geroderma osteodysplastica

Significance: Pathogenic
ClinVar: RCV000002772

Variant: NM_152281.2(GORAB):c.737+5G>C

Type: Variant
Allele: NM_152281.2(GORAB):c.737+5G>C 17692
Gene:
Type: single nucleotide variant
Location: Chr1: 170544850 - assembly GRCh38
Chr1: 170513991 - assembly GRCh37
References: OMIM: 607983.0004

Condition

Disease: Geroderma osteodysplastica

Citation

    For discussion of the splice site mutation in the GORAB gene (662+5G-C) that was found in compound heterozygous state in a patient with geroderma osteodysplastica (GO; 231070) by Hennies et al. (2008), see 607983.0003.
PMID:18997784