Variant (rsID / SNP)

rs185041492

rs185041492 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRDM16. Location: chromosome 1, position 3,319,384. Clinical significance in the table: Likely benign.

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Reference-table entries

PRDM16Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:3319384
Cytoband: 1p36.32
HGVS: NM_022114.4(PRDM16):c.706G>A (p.Asp236Asn)
Allele change: Missense_D236N

Associated conditions / phenotypes

Wolff-Parkinson-White pattern|Left ventricular noncompaction 8

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.