Variant (rsID / SNP)

rs113316011

rs113316011 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RASA1, CCNH. Location: chromosome 5, position 86,679,564. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RASA1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:86679564
Cytoband: 5q14.3
HGVS: NM_002890.3(RASA1):c.2725A>G (p.Ile909Val)
Allele change: Missense_I909V

Associated conditions / phenotypes

Capillary malformation-arteriovenous malformation 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.