RGD:13815189 Rat Genome Database

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Variant: RGD:13815189 -  Homo sapiens

RGD ID: 13815189
RS ID: rs780988351
ClinVar ID: CV562170
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 75,932,393
GRCh38 7 76,303,076
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001540.5:c.364G>A
LRG_248:g.5519G>A
NG_008995.1:g.5519G>A
NC_000007.14:g.76303076G>A
More... 		04/09/2018 missense variant uncertain significance Charcot-Marie-Tooth disease type 2F; Charcot-Marie-Tooth disease, neuronal, Type 2F; Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth Neuropathy Type 2F; CMT 2F; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HSPB1
Accession:NM_001540
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000705541 CLINVAR
  RCV001174180 CLINVAR
  RCV002060882 CLINVAR
dbSNP (RS) rs780988351 CLINVAR
MedGen C0007959 CLINVAR
  C1847823 CLINVAR
  C3661900 CLINVAR
NCBI Gene HSPB1 CLINVAR
OMIM 602195 CLINVAR
  606595 CLINVAR
SNOMED CT 50548001 CLINVAR