Variant (rsID / SNP)

rs115086172

rs115086172 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RASA1, CCNH. Location: chromosome 5, position 86,686,797. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RASA1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:86686797
Cytoband: 5q14.3
HGVS: NM_002890.3(RASA1):c.*97A>G
Allele change: Silent

Associated conditions / phenotypes

Capillary malformation-arteriovenous malformation 1|Parkes Weber 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.