Variant (rsID / SNP)

rs200358025

rs200358025 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCM2. Location: chromosome 7, position 45,108,137. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CCM2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:45108137
Cytoband: 7p13
HGVS: NM_031443.4(CCM2):c.568G>A (p.Val190Met)
Allele change: Silent

Associated conditions / phenotypes

Cerebral cavernous malformation 2

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.