Variant (rsID / SNP)

rs2053380

rs2053380 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VWDE. Location: chromosome 7, position 12,400,837. The table records no clinical significance for this variant.

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Reference-table entries

VWDENot classified

Variant type: missense_variant
Chromosome / position: 7:12400837
HGVS: NM_001135924.3,c.3095C>T,p.Thr1032Met
Allele change: Missense_T762M

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.