ClinVar

NM_001395513.1(TMPRSS9):c.854C>T (p.Pro285Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 2408367 (on Assembly GRCh38)
• Chr19: 2408365 (on Assembly GRCh37)

Preferred name:

NM_001395513.1(TMPRSS9):c.854C>T (p.Pro285Leu)

HGVS:

• NC_000019.10:g.2408367C>T
• NM_001385642.1:c.158C>T
• NM_001395513.1:c.854C>TMANE SELECT
• NM_182973.3:c.752C>T
• NP_001372571.1:p.Pro53Leu
• NP_001382442.1:p.Pro285Leu
• NP_892018.1:p.Pro251Leu
• NC_000019.9:g.2408365C>T
• NM_182973.1:c.752C>T

This HGVS expression did not pass validation

Protein change:

P251L

Molecular consequence:

• NM_001385642.1:c.158C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395513.1:c.854C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_182973.3:c.752C>T - missense variant - [Sequence Ontology: SO:0001583]