Variant (rsID / SNP)

rs62643631

rs62643631 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VWF. Location: chromosome 12, position 6,153,464. Clinical significance in the table: Uncertain significance.

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Reference-table entries

VWFUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:6153464
Cytoband: 12p13.31
HGVS: NM_000552.5(VWF):c.2435C>T (p.Pro812Leu)
Allele change: Missense_P812L

Associated conditions / phenotypes

Abnormal bleeding

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.