Variant (rsID / SNP)

rs137852841

rs137852841 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCM2. Location: chromosome 7, position 45,104,092. Clinical significance in the table: Pathogenic.

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Reference-table entries

CCM2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:45104092
Cytoband: 7p13
HGVS: NM_031443.4(CCM2):c.319C>T (p.Gln107Ter)
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.