Variant (rsID / SNP)

rs141638421

rs141638421 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRYAB. Location: chromosome 11, position 111,779,546. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CRYABUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:111779546
Cytoband: 11q23.1
HGVS: NM_001289808.2(CRYAB):c.470G>A (p.Arg157His)
Allele change: Missense_R157H

Associated conditions / phenotypes

Dilated cardiomyopathy 1II

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.