NM_005141.5(FGB):c.794C>T (p.Pro265Leu)Rat Genome Database

Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer VCMap
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant : CV496315 (NM_005141.5(FGB):c.794C>T (p.Pro265Leu)) Homo sapiens

Symbol: CV496315
Name: NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
RGD ID: 13531858
Condition: Abnormal bleeding [RCV000851949]|Abnormal bleeding [RCV001270563]|Afibrinogenemia [RCV002245051]|Congenital afibrinogenemia [RCV000660563]|Hypofibrinogenemia [RCV000851887]|not provided [RCV000861598]|not specified [RCV000606613]
Clinical Significance: pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 05/01/2020
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter|no assertion criteria provided
Related Genes: FGB  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|research
HGVS Name(s): NC_000004.12:g.154568456C>T
NP_005132.2:p.Pro265Leu
LRG_558t1:c.794C>T
NG_008833.1:g.10477C>T
LRG_558:g.10477C>T
NC_000004.11:g.155489608C>T
NM_001184741.1:c.617C>T
NP_001171670.1:p.Pro206Leu
NM_005141.4:c.794C>T
NM_005141.5:c.794C>T
NP_005132.2:p.Pro265Leu
LRG_558p1:p.Pro265Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh384154,568,456 - 154,568,456CLINVAR
GRCh374155,489,608 - 155,489,608CLINVAR
Cytogenetic Map44q31.3CLINVAR
Trait Synonyms: AllHighlyPenetrant; none provided; Thrombocytopenia



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Additional References at PubMed
PMID:10688828   PMID:19420351   PMID:24033266   PMID:25741868   PMID:28492532   PMID:31064749  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000606613 CLINVAR
  RCV000660563 CLINVAR
  RCV000851887 CLINVAR
  RCV000851949 CLINVAR
  RCV000861598 CLINVAR
  RCV001270563 CLINVAR
  RCV002245051 CLINVAR
dbSNP (RS) rs6054 CLINVAR
GWAS Catalog GCST003194 GWAS Catalog
  GCST009145 GWAS Catalog
  GCST009146 GWAS Catalog
MedGen C0001733 CLINVAR
  C0553681 CLINVAR
  C1458140 CLINVAR
  C2584774 CLINVAR
  CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene FGB CLINVAR
OMIM 134830 CLINVAR
  202400 CLINVAR
SNOMED CT 278504009 CLINVAR