Variant (rsID / SNP)

rs34407151

rs34407151 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALPK3. Location: chromosome 15, position 85,382,307. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ALPK3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:85382307
Cytoband: 15q25.3
HGVS: NM_020778.5(ALPK3):c.401G>A (p.Arg134His)
Allele change: Missense_R336H

Associated conditions / phenotypes

Cardiomyopathy, familial hypertrophic 27

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.