Variant (rsID / SNP)

rs138221037

rs138221037 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPRSS15. Location: chromosome 21, position 19,715,821. Clinical significance in the table: Pathogenic.

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Reference-table entries

TMPRSS15Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:19715821
Cytoband: 21q21.1
HGVS: NM_002772.3(TMPRSS15):c.1428+2T>G
Allele change: Silent

Associated conditions / phenotypes

Enterokinase deficiency

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.