RGD:11600167 Rat Genome Database

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Variant: RGD:11600167 -  Homo sapiens

RGD ID: 11600167
RS ID: rs185967190
ClinVar ID: CV311241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPER  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 34,194,439
GRCh38 7 34,154,827
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.254917A>C
NC_000007.14:g.34154827A>C
NC_000007.13:g.34194439A>C
NM_001365308.1:c.*1554A>C
More... 		06/14/2016 3 prime utr variant uncertain significance 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:XM_047419939
Location:3UTRS;EXON

Gene Symbol:BMPER
Accession:NM_001410872
Location:3UTRS;EXON

Gene Symbol:BMPER
Accession:NM_133468
Location:3UTRS;EXON

Gene Symbol:BMPER
Accession:NM_001365308
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000271431 CLINVAR
dbSNP (RS) rs185967190 CLINVAR
MedGen C1842691 CLINVAR
NCBI Gene BMPER CLINVAR
OMIM 608022 CLINVAR
  608699 CLINVAR