Variant (rsID / SNP)

rs201363767

rs201363767 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,123,356. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

VPS13BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:100123356
Cytoband: 8q22.2
HGVS: NM_152564.5(VPS13B):c.611A>G (p.Asn204Ser)
Allele change: Missense_N204S

Associated conditions / phenotypes

Cohen syndrome

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.