Variant (rsID / SNP)

rs41348347

rs41348347 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to THBD. Location: chromosome 20, position 23,028,686. Clinical significance in the table: Benign.

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Reference-table entries

THBDBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:23028686
Cytoband: 20p11.21
HGVS: NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr)
Allele change: Missense_D486Y

Associated conditions / phenotypes

Thrombomodulin-related bleeding disorder|Atypical hemolytic-uremic syndrome with thrombomodulin anomaly

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.