RGD:11599943 Rat Genome Database

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Variant: RGD:11599943 -  Homo sapiens

RGD ID: 11599943
RS ID: rs114417992
ClinVar ID: CV311186
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPER  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 33,944,584
GRCh38 7 33,904,972
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_031933.1:g.5062G>C
NC_000007.14:g.33904972G>C
NC_000007.13:g.33944584G>C
NM_133468.5:c.-313G>C
More... 		01/12/2018 5 prime utr variant benign|likely benign infancy <1 / 1 000 000 VERTEBRAL OSSIFICATION, DEFECT IN, WITH NEPHROGENIC RESTS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BMPER
Accession:NM_133468
Location:5UTRS;EXON

Gene Symbol:BMPER
Accession:XM_047419939
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BMPER
Accession:NM_001410872
Location:INTRON

Gene Symbol:BMPER
Accession:NM_001365308
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000269501 CLINVAR
dbSNP (RS) rs114417992 CLINVAR
MedGen C1842691 CLINVAR
NCBI Gene BMPER CLINVAR
OMIM 608022 CLINVAR
  608699 CLINVAR