RGD:28868607 Rat Genome Database

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Variant: RGD:28868607 -  Homo sapiens

RGD ID: 28868607
RS ID: rs533355737
ClinVar ID: CV868726
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGHMBP2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 68,707,578
GRCh38 11 68,940,110
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_250:g.41260G>A
NC_000011.10:g.68940110G>A
LRG_250t1:c.*379G>A
NM_002180.3:c.*379G>A
More... 		01/12/2018 3 prime utr variant uncertain significance HMN VI; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VI; Neuronopathy, distal hereditary motor, type VI; Neuronopathy, severe infantile axonal, with respiratory failure; NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1; Severe infantile axonal neuropathy with respiratory failure; Spinal muscular atrophy with respiratory distress 1; SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IGHMBP2
Accession:XM_011544994
Location:3UTRS;EXON

Gene Symbol:IGHMBP2
Accession:NM_002180
Location:3UTRS;EXON

Gene Symbol:IGHMBP2
Accession:XM_017017670
Location:3UTRS;EXON

Gene Symbol:IGHMBP2
Accession:XM_005273975
Location:3UTRS;EXON

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 RCV001112592 CLINVAR
dbSNP (RS) rs533355737 CLINVAR
MedGen C1858517 CLINVAR
NCBI Gene IGHMBP2 CLINVAR
OMIM 600502 CLINVAR
  604320 CLINVAR