ClinVar

NM_019616.4(F7):c.1085C>T (p.Thr362Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

• Chr13: 113118758 (on Assembly GRCh38)
• Chr13: 113773072 (on Assembly GRCh37)

Preferred name:

NM_019616.4(F7):c.1085C>T (p.Thr362Met)

HGVS:

• NC_000013.11:g.113118758C>T
• NG_009258.1:g.960C>T
• NG_009262.1:g.17968C>T
• NM_000131.4:c.1151C>T
• NM_001267554.2:c.899C>T
• NM_019616.4:c.1085C>TMANE SELECT
• NP_000122.1:p.Thr384Met
• NP_001254483.1:p.Thr300Met
• NP_062562.1:p.Thr362Met
• LRG_554t1:c.1151C>T
• LRG_548:g.960C>T
• LRG_554:g.17968C>T
• LRG_554p1:p.Thr384Met
• NC_000013.10:g.113773072C>T
• NM_019616.4:c.1085C>T
• NR_051961.2:n.1169C>T
• p.Thr384Met

This HGVS expression did not pass validation

Protein change:

T300M

Links:

dbSNP: rs531225271

NCBI 1000 Genomes Browser:

rs531225271

Molecular consequence:

• NM_000131.4:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267554.2:c.899C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_019616.4:c.1085C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_051961.2:n.1169C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]