ClinVar

NM_019616.4(F7):c.1292C>T (p.Ser431Leu)

Gene:

F7:coagulation factor VII [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

• Chr13: 113118965 (on Assembly GRCh38)
• Chr13: 113773279 (on Assembly GRCh37)

Preferred name:

NM_019616.4(F7):c.1292C>T (p.Ser431Leu)

HGVS:

• NC_000013.11:g.113118965C>T
• NG_009258.1:g.1167C>T
• NG_009262.1:g.18175C>T
• NM_000131.4:c.1358C>T
• NM_001267554.2:c.1106C>T
• NM_019616.4:c.1292C>TMANE SELECT
• NP_000122.1:p.Ser453Leu
• NP_001254483.1:p.Ser369Leu
• NP_062562.1:p.Ser431Leu
• LRG_554t1:c.1358C>T
• LRG_548:g.1167C>T
• LRG_554:g.18175C>T
• LRG_554p1:p.Ser453Leu
• NC_000013.10:g.113773279C>T
• NM_001267554.1:c.1106C>T
• NR_051961.2:n.1376C>T

This HGVS expression did not pass validation

Protein change:

S369L

Links:

dbSNP: rs1490539322

NCBI 1000 Genomes Browser:

rs1490539322

Molecular consequence:

• NM_000131.4:c.1358C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267554.2:c.1106C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_019616.4:c.1292C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_051961.2:n.1376C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]