RGD:8565572 Rat Genome Database

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Variant: RGD:8565572 -  Homo sapiens

RGD ID: 8565572
RS ID: rs587776838
ClinVar ID: CV31416
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 155,533,165
GRCh38 4 154,612,013
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_008834.1:g.5738G>A
NC_000004.12:g.154612013C>T
NC_000004.11:g.155533165C>T
NM_000509.4:c.307+5G>A
More...
09/26/2014 intron variant pathogenic 1-9 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FGG
Accession:NM_000509
Location:INTRON

Gene Symbol:FGG
Accession:NM_021870
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11001903  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017799 CLINVAR
dbSNP (RS) rs587776838 CLINVAR
MedGen C2584774 CLINVAR
NCBI Gene FGG CLINVAR
OMIM 134850 CLINVAR
  202400 CLINVAR
OMIM Allele 134850.0017 CLINVAR