ClinVar

NM_005141.4(FGB):c.130C>T (p.Arg44Cys)

Gene:

FGB:fibrinogen beta chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q31.3

Genomic location:

• Chr4: 154565823 (on Assembly GRCh38)
• Chr4: 155486975 (on Assembly GRCh37)

Preferred name:

NM_005141.4(FGB):c.130C>T (p.Arg44Cys)

Other names:

R14C; FIBRINOGEN SEATTLE 1; FIBRINOGEN IJmuiden

HGVS:

• NC_000004.12:g.154565823C>T
• NG_008833.1:g.7844C>T
• NM_001184741.1:c.130C>T
• NM_001382759.1:c.130C>T
• NM_001382760.1:c.130C>T
• NM_001382761.1:c.130C>T
• NM_001382762.1:c.130C>T
• NM_001382763.1:c.130C>T
• NM_001382764.1:c.130C>T
• NM_001382765.1:c.130C>T
• NM_005141.5:c.130C>TMANE SELECT
• NP_001171670.1:p.Arg44Cys
• NP_001369688.1:p.Arg44Cys
• NP_001369689.1:p.Arg44Cys
• NP_001369690.1:p.Arg44Cys
• NP_001369691.1:p.Arg44Cys
• NP_001369692.1:p.Arg44Cys
• NP_001369693.1:p.Arg44Cys
• NP_001369694.1:p.Arg44Cys
• NP_005132.2:p.Arg44Cys
• NP_005132.2:p.Arg44Cys
• LRG_558t1:c.130C>T
• LRG_558:g.7844C>T
• LRG_558p1:p.Arg44Cys
• NC_000004.11:g.155486975C>T
• NM_005141.4:c.130C>T
• P02675:p.Arg44Cys

This HGVS expression did not pass validation

Note:

NCBI staff reviewed the sequence information reported in PubMed 1565641 to determine the location of this allele on current reference sequence.

Protein change:

R44C; ARG14CYS

Links:

UniProtKB: P02675#VAR_002403; OMIM: 134830.0002; dbSNP: rs121909616

NCBI 1000 Genomes Browser:

rs121909616

Molecular consequence:

• NM_001184741.1:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382759.1:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382760.1:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382761.1:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382762.1:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382763.1:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382764.1:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382765.1:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005141.5:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]