Variant (rsID / SNP)

rs56284940

rs56284940 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FHL2. Location: chromosome 2, position 106,002,889. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FHL2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:106002889
Cytoband: 2q12.2
HGVS: NM_001318895.3(FHL2):c.85G>A (p.Val29Met)
Allele change: Missense_V29M

Associated conditions / phenotypes

Primary dilated 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.