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

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Variant : CV31421 (NM_005141.4(FGB):c.130C>T (p.Arg44Cys)) Homo sapiens

Symbol: CV31421
Name: NM_005141.4(FGB):c.130C>T (p.Arg44Cys)
RGD ID: 8565575
Condition: FIBRINOGEN CHRISTCHURCH 2 [RCV000017804]|Hypofibrinogenemia [RCV000852015]
Clinical Significance: likely pathogenic|other
Last Evaluated: 02/01/2019
Review Status: classified by multiple submitters|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.7844C>T
NC_000004.12:g.154565823C>T
NC_000004.11:g.155486975C>T
NP_005132.2:p.Arg44Cys
LRG_558t1:c.130C>T
LRG_558:g.7844C>T
LRG_558p1:p.Arg44Cys
P02675:p.Arg44Cys
NM_001184741.1:c.130C>T
NP_001171670.1:p.Arg44Cys
NP_005132.2:p.Arg44Cys
NM_001382765.1:c.130C>T
NM_005141.5:c.130C>T
NP_001369693.1:p.Arg44Cys
NM_001382761.1:c.130C>T
NM_001382764.1:c.130C>T
NP_001369691.1:p.Arg44Cys
NP_001369694.1:p.Arg44Cys
NP_001369689.1:p.Arg44Cys
NM_001382763.1:c.130C>T
NM_005141.4:c.130C>T
NP_001369692.1:p.Arg44Cys
NM_001382759.1:c.130C>T
NP_001369690.1:p.Arg44Cys
NM_001382760.1:c.130C>T
NM_001382762.1:c.130C>T
NP_001369688.1:p.Arg44Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh384154,565,823 - 154,565,823CLINVAR
GRCh374155,486,975 - 155,486,975CLINVAR
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:1565641   PMID:25741868   PMID:31064749  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017804 CLINVAR
  RCV000852015 CLINVAR
dbSNP (RS) rs121909616 CLINVAR
MedGen C0553681 CLINVAR
NCBI Gene FGB CLINVAR
OMIM 134830 CLINVAR
OMIM Allele 134830.0002 CLINVAR