RGD:9850446 Rat Genome Database

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Variant: RGD:9850446 -  Homo sapiens

RGD ID: 9850446
RS ID: rs786201022
ClinVar ID: CV181541
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130065304  SNRPB  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 2,451,408
GRCh38 20 2,470,762
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_042057.1:g.5092C>A
NC_000020.11:g.2470762G>T
NC_000020.10:g.2451408G>T
NM_003091.4:c.-72C>A
More... 		03/13/2015 5 prime utr variant pathogenic all ages|variable <1 / 1 000 000 RIB GAP DEFECTS WITH MICROGNATHIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SNRPB
Accession:NM_003091
Location:5UTRS;EXON

Gene Symbol:SNRPB
Accession:NM_198216
Location:5UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25047197  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000162253 CLINVAR
dbSNP (RS) rs786201022 CLINVAR
MedGen C0265342 CLINVAR
NCBI Gene LOC130065304 CLINVAR
  SNRPB CLINVAR
OMIM 117650 CLINVAR
  182282 CLINVAR
OMIM Allele 182282.0005 CLINVAR
SNOMED CT 51780007 CLINVAR