RGD:28871390 Rat Genome Database

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Variant: RGD:28871390 -  Homo sapiens

RGD ID: 28871390
RS ID: rs1174133451
ClinVar ID: CV898997
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDRG1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 134,250,330
GRCh38 8 133,238,087
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.133238087G>A
NM_001374844.1:c.*791C>T
NM_001374845.1:c.*791C>T
LRG_258:g.64169C>T
More... 		01/13/2018 3 prime utr variant uncertain significance CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4D; Charcot-Marie-Tooth Neuropathy Type 4D; Neuropathy, hereditary motor and sensory, LOM type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NDRG1
Accession:NM_006096
Location:3UTRS;EXON

Gene Symbol:NDRG1
Accession:NM_001258432
Location:3UTRS;EXON

Gene Symbol:NDRG1
Accession:NM_001258433
Location:3UTRS;EXON

Gene Symbol:NDRG1
Accession:NM_001374847
Location:3UTRS;EXON

Gene Symbol:NDRG1
Accession:NM_001135242
Location:3UTRS;EXON

Gene Symbol:NDRG1
Accession:NM_001374845
Location:3UTRS;EXON

Gene Symbol:NDRG1
Accession:NM_001374844
Location:3UTRS;EXON

Gene Symbol:NDRG1
Accession:NM_001374846
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001163937 CLINVAR
dbSNP (RS) rs1174133451 CLINVAR
MedGen C1832334 CLINVAR
NCBI Gene NDRG1 CLINVAR
OMIM 601455 CLINVAR
  605262 CLINVAR