RGD:11591032 Rat Genome Database

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Variant: RGD:11591032 -  Homo sapiens

RGD ID: 11591032
RS ID: rs35907174
ClinVar ID: CV303434
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 75,931,984
GRCh38 7 76,302,667
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_248t1:c.-46C>T
LRG_248:g.5110C>T
NG_008995.1:g.5110C>T
NC_000007.14:g.76302667C>T
More...
01/12/2018 5 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 Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000325183 CLINVAR
  RCV000384379 CLINVAR
  RCV001613204 CLINVAR
dbSNP (RS) rs35907174 CLINVAR
MedGen C1847823 CLINVAR
  C2608087 CLINVAR
  C3661900 CLINVAR
NCBI Gene HSPB1 CLINVAR
OMIM 602195 CLINVAR
  606595 CLINVAR
  608634 CLINVAR