Variant (rsID / SNP)

rs182498192

rs182498192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RASA1, CCNH. Location: chromosome 5, position 86,627,242. Clinical significance in the table: Likely benign.

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Reference-table entries

RASA1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:86627242
Cytoband: 5q14.3
HGVS: NM_002890.3(RASA1):c.617T>C (p.Ile206Thr)
Allele change: Missense_I206T

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.