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Variant (rsID / SNP)

rs369251473

RASA1CCNH

rs369251473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RASA1, CCNH. Location: chromosome 5, position 86,685,202. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RASA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:86685202
Cytoband
5q14.3
HGVS
NM_002890.3(RASA1):c.2926-8C>T
Allele change
Silent

Associated conditions / phenotypes

Capillary malformation-arteriovenous malformation syndrome

Public references

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