ClinVar

NM_000128.4(F11):c.159C>A (p.His53Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q35.2

Genomic location:

• Chr4: 186271712 (on Assembly GRCh38)
• Chr4: 187192866 (on Assembly GRCh37)

Preferred name:

NM_000128.4(F11):c.159C>A (p.His53Gln)

HGVS:

• NC_000004.12:g.186271712C>A
• NG_008051.1:g.10749C>A
• NM_000128.4:c.159C>AMANE SELECT
• NM_001354804.2:c.159C>A
• NP_000119.1:p.His53Gln
• NP_000119.1:p.His53Gln
• NP_001341733.1:p.His53Gln
• LRG_583t1:c.159C>A
• LRG_583:g.10749C>A
• LRG_583p1:p.His53Gln
• NC_000004.11:g.187192866C>A
• NM_000128.3:c.159C>A
• P03951:p.His53Gln

This HGVS expression did not pass validation

Protein change:

H53Q

Links:

UniProtKB: P03951#VAR_067933; UniProtKB/Swiss-Prot: VAR_067933; dbSNP: rs281875261

NCBI 1000 Genomes Browser:

rs281875261

Molecular consequence:

• NM_000128.4:c.159C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354804.2:c.159C>A - missense variant - [Sequence Ontology: SO:0001583]