Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs140601319

VPS13B

rs140601319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,155,318. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

VPS13BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:100155318
Cytoband
8q22.2
HGVS
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
Allele change
Missense_A590T

Associated conditions / phenotypes

Cohen syndrome|History of neurodevelopmental disorder|Intellectual disability

Public references

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