ClinVar

NM_005141.5(FGB):c.419C>A (p.Thr140Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q31.3

Genomic location:

• Chr4: 154566601 (on Assembly GRCh38)
• Chr4: 155487753 (on Assembly GRCh37)

Preferred name:

NM_005141.5(FGB):c.419C>A (p.Thr140Asn)

HGVS:

• NC_000004.12:g.154566601C>A
• NG_008833.1:g.8622C>A
• NM_001184741.1:c.242C>A
• NM_001382759.1:c.307-20C>A
• NM_001382760.1:c.419C>A
• NM_001382761.1:c.419C>A
• NM_001382762.1:c.419C>A
• NM_001382763.1:c.419C>A
• NM_001382764.1:c.419C>A
• NM_001382765.1:c.419C>A
• NM_005141.5:c.419C>AMANE SELECT
• NP_001171670.1:p.Thr81Asn
• NP_001369689.1:p.Thr140Asn
• NP_001369690.1:p.Thr140Asn
• NP_001369691.1:p.Thr140Asn
• NP_001369692.1:p.Thr140Asn
• NP_001369693.1:p.Thr140Asn
• NP_001369694.1:p.Thr140Asn
• NP_005132.2:p.Thr140Asn
• NP_005132.2:p.Thr140Asn
• LRG_558t1:c.419C>A
• LRG_558:g.8622C>A
• LRG_558p1:p.Thr140Asn
• NC_000004.11:g.155487753C>A
• NM_005141.4:c.419C>A

This HGVS expression did not pass validation

Protein change:

T140N

Molecular consequence:

• NM_001382759.1:c.307-20C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001184741.1:c.242C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382760.1:c.419C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382761.1:c.419C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382762.1:c.419C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382763.1:c.419C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382764.1:c.419C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382765.1:c.419C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005141.5:c.419C>A - missense variant - [Sequence Ontology: SO:0001583]