ClinVar

NM_021870.3(FGG):c.1190C>T (p.Thr397Ile)

Gene:

FGG:fibrinogen gamma chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q32.1

Genomic location:

• Chr4: 154605006 (on Assembly GRCh38)
• Chr4: 155526158 (on Assembly GRCh37)

Preferred name:

NM_021870.3(FGG):c.1190C>T (p.Thr397Ile)

HGVS:

• NC_000004.12:g.154605006G>A
• NG_008834.1:g.12745C>T
• NM_000509.6:c.1190C>T
• NM_021870.3:c.1190C>TMANE SELECT
• NP_000500.2:p.Thr397Ile
• NP_068656.2:p.Thr397Ile
• LRG_585t1:c.1190C>T
• LRG_585t2:c.1190C>T
• LRG_585:g.12745C>T
• LRG_585p1:p.Thr397Ile
• LRG_585p2:p.Thr397Ile
• NC_000004.11:g.155526158G>A
• NM_000509.5:c.1190C>T

This HGVS expression did not pass validation

Protein change:

T397I

Links:

dbSNP: rs1731071910

NCBI 1000 Genomes Browser:

rs1731071910

Molecular consequence:

• NM_000509.6:c.1190C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021870.3:c.1190C>T - missense variant - [Sequence Ontology: SO:0001583]