Variant (rsID / SNP)

rs114115159

rs114115159 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ILK. Location: chromosome 11, position 6,625,566. Clinical significance in the table: Likely benign.

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Reference-table entries

ILKLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:6625566
Cytoband: 11p15.4
HGVS: NM_004517.4(ILK):c.65A>G (p.Asn22Ser)
Allele change: Missense_N22S

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Cardiomyopathy

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.