RGD:13526274 Rat Genome Database

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Variant: RGD:13526274 -  Homo sapiens

RGD ID: 13526274
RS ID: rs771526347
ClinVar ID: CV503415
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGHMBP2  LOC127821728  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 68,671,372
GRCh38 11 68,903,904
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002180.2:c.-49G>C
NC_000011.10:g.68903904G>C
NC_000011.9:g.68671372G>C
NM_002180.3:c.-49G>C
More... 		10/23/2017 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:IGHMBP2
Accession:XM_005273976
Location:5UTRS;EXON

Gene Symbol:IGHMBP2
Accession:XM_047426881
Location:5UTRS;EXON

Gene Symbol:IGHMBP2
Accession:XM_017017671
Location:5UTRS;EXON

Gene Symbol:IGHMBP2
Accession:NM_002180
Location:5UTRS;EXON

Gene Symbol:IGHMBP2
Accession:XM_011544994
Location:INTRON

Gene Symbol:IGHMBP2
Accession:XM_005273975
Location:INTRON

Gene Symbol:IGHMBP2
Accession:XM_017017670
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000603921 CLINVAR
dbSNP (RS) rs771526347 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene IGHMBP2 CLINVAR
OMIM 600502 CLINVAR