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Variant (rsID / SNP)

rs144718603

VAPB

rs144718603 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VAPB. Location: chromosome 20, position 57,019,226. Clinical significance in the table: Uncertain significance.

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Reference-table entries

VAPBUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
20:57019226
Cytoband
20q13.32
HGVS
NM_004738.5(VAPB):c.667C>T (p.Arg223Trp)
Allele change
Silent

Associated conditions / phenotypes

Adult-onset proximal spinal muscular atrophy, autosomal dominant|Amyotrophic lateral sclerosis type 8|Adult-onset proximal spinal muscular atrophy, autosomal dominant|Amyotrophic lateral sclerosis type 8

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.