ClinVar

NM_001395513.1(TMPRSS9):c.2957C>T (p.Thr986Ile)

Gene:

TMPRSS9:transmembrane serine protease 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 2425241 (on Assembly GRCh38)
• Chr19: 2425239 (on Assembly GRCh37)

Preferred name:

NM_001395513.1(TMPRSS9):c.2957C>T (p.Thr986Ile)

HGVS:

• NC_000019.10:g.2425241C>T
• NM_001385642.1:c.2261C>T
• NM_001395513.1:c.2957C>TMANE SELECT
• NM_182973.3:c.2855C>T
• NP_001372571.1:p.Thr754Ile
• NP_001382442.1:p.Thr986Ile
• NP_892018.1:p.Thr952Ile
• NC_000019.9:g.2425239C>T
• NM_182973.1:c.2855C>T

This HGVS expression did not pass validation

Protein change:

T754I

Molecular consequence:

• NM_001385642.1:c.2261C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395513.1:c.2957C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_182973.3:c.2855C>T - missense variant - [Sequence Ontology: SO:0001583]