Variant (rsID / SNP)

rs35342235

rs35342235 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,454,831. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

VPS13BBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:100454831
Cytoband: 8q22.2
HGVS: NM_152564.5(VPS13B):c.3413C>T (p.Pro1138Leu)
Allele change: Missense_P1138L

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.