RGD:11603768 Rat Genome Database

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Variant: RGD:11603768 -  Homo sapiens

RGD ID: 11603768
RS ID: rs564244
ClinVar ID: CV321822
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGHMBP2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 68,707,454
GRCh38 11 68,939,986
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.*255T>C
LRG_250t1:c.*255T>C
LRG_250:g.41136T>C
NG_007976.1:g.41136T>C
More... 		06/18/2018 3 prime utr variant benign 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; none provided; 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:XM_005273975
Location:3UTRS;EXON

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

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

Gene Symbol:IGHMBP2
Accession:XM_047426881
Location:INTRON

Gene Symbol:IGHMBP2
Accession:XM_005273976
Location:INTRON

Gene Symbol:IGHMBP2
Accession:XM_017017671
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000303046 CLINVAR
  RCV001711783 CLINVAR
dbSNP (RS) rs564244 CLINVAR
MedGen C1858517 CLINVAR
  C3661900 CLINVAR
NCBI Gene IGHMBP2 CLINVAR
OMIM 600502 CLINVAR
  604320 CLINVAR