ClinVar

NM_000504.4(F10):c.1325G>A (p.Gly442Asp)

Gene:

F10:coagulation factor X [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

• Chr13: 113149375 (on Assembly GRCh38)
• Chr13: 113803689 (on Assembly GRCh37)

Preferred name:

NM_000504.4(F10):c.1325G>A (p.Gly442Asp)

HGVS:

• NC_000013.11:g.113149375G>A
• NG_009258.1:g.31577G>A
• NM_000504.4:c.1325G>AMANE SELECT
• NM_001312674.2:c.1193G>A
• NM_001312675.2:c.*316G>A
• NP_000495.1:p.Gly442Asp
• NP_001299603.1:p.Gly398Asp
• LRG_548t1:c.1325G>A
• LRG_548:g.31577G>A
• NC_000013.10:g.113803689G>A
• NM_000504.3:c.1325G>A

This HGVS expression did not pass validation

Protein change:

G398D

Links:

dbSNP: rs1233330150

NCBI 1000 Genomes Browser:

rs1233330150

Molecular consequence:

• NM_001312675.2:c.*316G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000504.4:c.1325G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001312674.2:c.1193G>A - missense variant - [Sequence Ontology: SO:0001583]