Variant (rsID / SNP)

rs187400273

rs187400273 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRDM16. Location: chromosome 1, position 3,342,635. 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: 1:3342635
Cytoband: 1p36.32
HGVS: NM_022114.4(PRDM16):c.3130C>T (p.Leu1044Phe)
Allele change: Missense_L1044F

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.