NM_005141.5(FGB):c.959G>A (p.Gly320Asp)Rat Genome Database

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Variant : CV615377 (NM_005141.5(FGB):c.959G>A (p.Gly320Asp)) Homo sapiens

Symbol: CV615377
Name: NM_005141.5(FGB):c.959G>A (p.Gly320Asp)
RGD ID: 14975754
Condition: Hypofibrinogenemia [RCV000851917]
Clinical Significance: uncertain significance
Last Evaluated: 02/01/2019
Review Status: criteria provided, single submitter
Related Genes: FGB  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant|missense variant
Evidence: research
HGVS Name(s): NM_001382763.1:c.950G>A
NM_005141.4:c.959G>A
NM_001382764.1:c.959G>A
NM_001382762.1:c.746-87G>A
NM_001382759.1:c.827G>A
NP_001369693.1:p.Gly320Asp
NP_001369694.1:p.Gly320Asp
NM_001382760.1:c.959G>A
NM_001382761.1:c.959G>A
NP_005132.2:p.Gly320Asp
NM_001382765.1:c.959G>A
NM_005141.5:c.959G>A
NP_001369688.1:p.Gly276Asp
NP_001369692.1:p.Gly317Asp
NP_001369689.1:p.Gly320Asp
NP_001369690.1:p.Gly320Asp
NC_000004.12:g.154569514G>A
NM_001184741.1:c.782G>A
LRG_558:g.11535G>A
NG_008833.1:g.11535G>A
NC_000004.11:g.155490666G>A
LRG_558p1:p.Gly320Asp
NP_001171670.1:p.Gly261Asp
LRG_558t1:c.959G>A
NP_005132.2:p.Gly320Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh384154,569,514 - 154,569,514CLINVAR
GRCh374155,490,666 - 155,490,666CLINVAR
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:25741868   PMID:31064749  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000851917 CLINVAR
dbSNP (RS) rs1578785100 CLINVAR
MedGen C0553681 CLINVAR
NCBI Gene FGB CLINVAR
OMIM 134830 CLINVAR