RGD:14719073 Rat Genome Database

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Variant: RGD:14719073 -  Homo sapiens

RGD ID: 14719073
RS ID: rs3829243
ClinVar ID: CV665180
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGHMBP2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 68,684,891
GRCh38 11 68,917,423
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.68917423G>A
NC_000011.9:g.68684891G>A
NM_002180.2:c.913-313G>A
NM_002180.3:c.913-313G>A
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:IGHMBP2
Accession:XM_017017670
Location:5UTRS;INTRON

Gene Symbol:IGHMBP2
Accession:NM_002180
Location:INTRON

Gene Symbol:IGHMBP2
Accession:XM_005273975
Location:INTRON

Gene Symbol:IGHMBP2
Accession:XM_011544994
Location:INTRON

Gene Symbol:IGHMBP2
Accession:XM_017017671
Location:INTRON

Gene Symbol:IGHMBP2
Accession:XM_005273976
Location:INTRON

Gene Symbol:IGHMBP2
Accession:XM_047426881
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000830612 CLINVAR
dbSNP (RS) rs3829243 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IGHMBP2 CLINVAR
OMIM 600502 CLINVAR