Variant (rsID / SNP)

rs2493292

rs2493292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRDM16. Location: chromosome 1, position 3,328,659. Clinical significance in the table: Benign.

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Reference-table entries

PRDM16Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:3328659
Cytoband: 1p36.32
HGVS: NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu)
Allele change: Missense_P633L

Associated conditions / phenotypes

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.