STRs database » VWA1 locus
Gene VWA1
Location Coding in 1p36.33
Reference region chr1:1435798-1435818 (hg38)
chr1:1371178-1371198 (hg19)
chr1:870158-870178 (hs1)
Repeat unit GGCGCGGAGC
Repeat type VNTR
Distribution of repeats in a superpopulation
Overview of repeats

In a study by Pagnamenta and colleagues (Pagnamenta et al., 2021), it was reported that a bi-allelic 10-bp repeat expansion (GGCGCGGAGC) in VWA1 gene exon 1 was present in 14 out of 15 families with hereditary motor neuropathy. The mean age of onset was 2.0 ± 1.4 years. In the gnomAD database, all individuals with the expanded allele to three repeats (89 out of 140,632) were heterozygous. Authors suggested that shorter allele (1 repeat) also leads to a premature stop codon and may represent a second disease-causing founder mutation at the same locus (71/136,000 heterozygous alleles were present in CentroMD database, but no homozygous were found).

→ View STRipy's population-wide repeat data for VWA1 locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Hereditary motor neuropathy (HMNR7) Paediatric Autosomal recessive 2 - ≥3