Variant (rsID / SNP)

rs200116659

rs200116659 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FHL2. Location: chromosome 2, position 105,979,907. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FHL2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:105979907
Cytoband: 2q12.2
HGVS: NM_001318895.3(FHL2):c.523A>C (p.Thr175Pro)
Allele change: Missense_T175P

Associated conditions / phenotypes

Primary dilated 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.