RGD:13541077 Rat Genome Database

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Variant: RGD:13541077 -  Homo sapiens

RGD ID: 13541077
RS ID: rs753312340
ClinVar ID: CV502296
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDRG1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 134,251,375
GRCh38 8 133,239,132
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_258t1:c.944-13C>T
LRG_258:g.63124C>T
NG_007943.1:g.63124C>T
NC_000008.11:g.133239132G>A
More... 		01/13/2018 intron variant likely benign|uncertain significance AllHighlyPenetrant; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4D; Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth Neuropathy Type 4D; Charcot-Marie-Tooth, Type 4; Neuropathy, hereditary motor and sensory, LOM type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NDRG1
Accession:NM_001374844
Location:INTRON

Gene Symbol:NDRG1
Accession:NM_001135242
Location:INTRON

Gene Symbol:NDRG1
Accession:NM_001374847
Location:INTRON

Gene Symbol:NDRG1
Accession:NM_006096
Location:INTRON

Gene Symbol:NDRG1
Accession:NM_001374846
Location:INTRON

Gene Symbol:NDRG1
Accession:NM_001258432
Location:INTRON

Gene Symbol:NDRG1
Accession:NM_001374845
Location:INTRON

Gene Symbol:NDRG1
Accession:NM_001258433
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000615640 CLINVAR
  RCV001164016 CLINVAR
  RCV001173721 CLINVAR
  RCV002062885 CLINVAR
dbSNP (RS) rs753312340 CLINVAR
MedGen C0007959 CLINVAR
  C1832334 CLINVAR
  C4082197 CLINVAR
  CN169374 CLINVAR
NCBI Gene NDRG1 CLINVAR
OMIM 601455 CLINVAR
  605262 CLINVAR
SNOMED CT 50548001 CLINVAR
  715795005 CLINVAR