RGD:28909920 Rat Genome Database

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Variant: RGD:28909920 -  Homo sapiens

RGD ID: 28909920
RS ID: rs557532119
ClinVar ID: CV898411
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPB1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 75,933,512
GRCh38 7 76,304,195
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_248t1:c.*22C>T
NM_001540.5:c.*22C>T
LRG_248:g.6638C>T
NG_008995.1:g.6638C>T
More... 		01/13/2018 3 prime utr variant benign|likely benign Charcot-Marie-Tooth disease type 2F; Charcot-Marie-Tooth disease, neuronal, Type 2F; Charcot-Marie-Tooth Neuropathy Type 2F; CMT 2F; HMN IIB; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 3; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIB; NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIB; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HSPB1
Accession:NM_001540
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001160973 CLINVAR
  RCV001160974 CLINVAR
  RCV002260687 CLINVAR
dbSNP (RS) rs557532119 CLINVAR
MedGen C1847823 CLINVAR
  C2608087 CLINVAR
  C3661900 CLINVAR
NCBI Gene HSPB1 CLINVAR
OMIM 602195 CLINVAR
  606595 CLINVAR
  608634 CLINVAR