Variant (rsID / SNP)

rs267607203

rs267607203 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRIT1. Location: chromosome 7, position 91,852,184. Clinical significance in the table: Pathogenic.

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Reference-table entries

KRIT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:91852184
Cytoband: 7q21.2
HGVS: NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)
Allele change: Nonsense_Q455X

Associated conditions / phenotypes

Cerebral cavernous malformation 1|Cerebral cavernous malformation

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.