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Variant (rsID / SNP)

rs140322345

ILK

rs140322345 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ILK. Location: chromosome 11, position 6,630,542. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ILKConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:6630542
Cytoband
11p15.4
HGVS
NM_004517.4(ILK):c.631C>T (p.Arg211Cys)
Allele change
Missense_R150C

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy

Public references

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