ClinVar

NM_000128.4(F11):c.992C>T (p.Thr331Ile)

Gene:

F11:coagulation factor XI [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q35.2

Genomic location:

• Chr4: 186280349 (on Assembly GRCh38)
• Chr4: 187201503 (on Assembly GRCh37)

Preferred name:

NM_000128.4(F11):c.992C>T (p.Thr331Ile)

HGVS:

• NC_000004.12:g.186280349C>T
• NG_008051.1:g.19386C>T
• NM_000128.4:c.992C>TMANE SELECT
• NP_000119.1:p.Thr331Ile
• NP_000119.1:p.Thr331Ile
• LRG_583t1:c.992C>T
• LRG_583:g.19386C>T
• LRG_583p1:p.Thr331Ile
• NC_000004.11:g.187201503C>T
• NM_000128.3:c.992C>T
• P03951:p.Thr331Ile

This HGVS expression did not pass validation

Protein change:

T331I

Links:

UniProtKB: P03951#VAR_067943; UniProtKB/Swiss-Prot: VAR_067943; dbSNP: rs281875253

NCBI 1000 Genomes Browser:

rs281875253

Molecular consequence:

• NM_000128.4:c.992C>T - missense variant - [Sequence Ontology: SO:0001583]