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

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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