Variant (rsID / SNP)

rs142674934

rs142674934 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,493,971. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

VPS13BConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:100493971
Cytoband: 8q22.2
HGVS: NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
Allele change: Missense_T1271S

Associated conditions / phenotypes

Cohen syndrome|History of neurodevelopmental disorder

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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