RGD:11603153 Rat Genome Database

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Variant: RGD:11603153 -  Homo sapiens

RGD ID: 11603153
RS ID: rs61865883
ClinVar ID: CV310600
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EGR2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 64,572,680
GRCh38 10 62,812,920
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_239:g.111981T>A
NG_008936.2:g.111981T>A
NC_000010.11:g.62812920A>T
NC_000010.10:g.64572680A>T
More... 		06/16/2018 3 prime utr variant benign|likely benign Charcot-Marie-Tooth disease, demyelinating, type 1d; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1D; CMT 1D; Hereditary motor and sensory neuropathy 1D; HMSN 1D; HMSN ID; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EGR2
Accession:NM_001410931
Location:3UTRS;EXON

Gene Symbol:EGR2
Accession:NM_001321037
Location:3UTRS;EXON

Gene Symbol:EGR2
Accession:NM_001136177
Location:3UTRS;EXON

Gene Symbol:EGR2
Accession:NM_001136179
Location:3UTRS;EXON

Gene Symbol:EGR2
Accession:NM_001136178
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:EGR2
Accession:NM_000399
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000297109 CLINVAR
  RCV001675782 CLINVAR
dbSNP (RS) rs61865883 CLINVAR
MedGen C1843247 CLINVAR
  C3661900 CLINVAR
NCBI Gene EGR2 CLINVAR
OMIM 129010 CLINVAR
  607678 CLINVAR