NM_005141.4(FGB):c.586C>T (p.Arg196Cys)Rat Genome Database

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Variant : CV31430 (NM_005141.4(FGB):c.586C>T (p.Arg196Cys)) Homo sapiens

Symbol: CV31430
Name: NM_005141.4(FGB):c.586C>T (p.Arg196Cys)
RGD ID: 8565583
Condition: FIBRINOGEN LONGMONT [RCV000017817]|Hypofibrinogenemia [RCV000851604]
Clinical Significance: uncertain significance|other
Last Evaluated: 02/01/2019
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: FGB  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|research
HGVS Name(s): NG_008833.1:g.9709C>T
NC_000004.12:g.154567688C>T
NC_000004.11:g.155488840C>T
NP_005132.2:p.Arg196Cys
LRG_558t1:c.586C>T
LRG_558:g.9709C>T
LRG_558p1:p.Arg196Cys
NP_001171670.1:p.Arg137Cys
P02675:p.Arg196Cys
NM_001184741.1:c.409C>T
NP_001369689.1:p.Arg196Cys
NP_001369690.1:p.Arg196Cys
NP_001369691.1:p.Arg196Cys
NM_001382765.1:c.586C>T
NM_005141.5:c.586C>T
NP_001369688.1:p.Arg152Cys
NP_001369693.1:p.Arg196Cys
NM_001382761.1:c.586C>T
NM_001382759.1:c.454C>T
NM_001382760.1:c.586C>T
NM_001382762.1:c.586C>T
NM_001382763.1:c.586C>T
NM_001382764.1:c.586C>T
NP_001369692.1:p.Arg196Cys
NP_001369694.1:p.Arg196Cys
NP_005132.2:p.Arg196Cys
NM_005141.4:c.586C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh384154,567,688 - 154,567,688CLINVAR
GRCh374155,488,840 - 155,488,840CLINVAR
Cytogenetic Map44q31.3CLINVAR



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Additional References at PubMed
PMID:11468164   PMID:25741868   PMID:31064749  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017817 CLINVAR
  RCV000851604 CLINVAR
dbSNP (RS) rs121909623 CLINVAR
MedGen C0553681 CLINVAR
NCBI Gene FGB CLINVAR
OMIM 134830 CLINVAR
OMIM Allele 134830.0011 CLINVAR