ClinVar

NM_000133.4(F9):c.1345C>T (p.Arg449Trp)

Gene:

F9:coagulation factor IX [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq27.1

Genomic location:

• ChrX: 139562030 (on Assembly GRCh38)
• ChrX: 138644189 (on Assembly GRCh37)

Preferred name:

NM_000133.4(F9):c.1345C>T (p.Arg449Trp)

HGVS:

• NC_000023.11:g.139562030C>T
• NG_007994.1:g.36295C>T
• NM_000133.4:c.1345C>TMANE SELECT
• NM_001313913.2:c.1231C>T
• NP_000124.1:p.Arg449Trp
• NP_000124.1:p.Arg449Trp
• NP_001300842.1:p.Arg411Trp
• LRG_556t1:c.1345C>T
• LRG_556:g.36295C>T
• LRG_556p1:p.Arg449Trp
• NC_000023.10:g.138644189C>T
• NM_000133.3:c.1345C>T

This HGVS expression did not pass validation

Protein change:

R411W

Links:

dbSNP: rs757996262

NCBI 1000 Genomes Browser:

rs757996262

Molecular consequence:

• NM_000133.4:c.1345C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313913.2:c.1231C>T - missense variant - [Sequence Ontology: SO:0001583]