RGD:13481056 Rat Genome Database

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Variant: RGD:13481056 -  Homo sapiens

RGD ID: 13481056
RS ID: rs765142574
ClinVar ID: CV441143
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPB1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 75,932,334
GRCh38 7 76,303,017
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_248:g.5460A>T
NG_008995.1:g.5460A>T
NP_001531.1:p.Asn102Ile
NC_000007.14:g.76303017A>T
More... 		04/18/2019 missense variant uncertain significance AllHighlyPenetrant; 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HSPB1
Accession:NM_001540
Location:EXON
Amino Acid Prediction: N to I (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPPAAIESPAVAAPAYSRALSRQ
LSSGVSEIRHTADRWRVSLDVIHFAPDELTVKTKDGVVEITGKHEERQDEHGYISRCFTRKYTLPPGVDPTQVSSSLSPE
GTLTVEAPMPKLATQSNEITIPVTFESRAQLGGPEAAKSDETAAK*
Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000517465 CLINVAR
  RCV000641082 CLINVAR
  RCV001162475 CLINVAR
  RCV003372737 CLINVAR
dbSNP (RS) rs765142574 CLINVAR
MedGen C0950123 CLINVAR
  C1847823 CLINVAR
  C2608087 CLINVAR
  CN169374 CLINVAR
NCBI Gene HSPB1 CLINVAR
OMIM 602195 CLINVAR
  606595 CLINVAR
  608634 CLINVAR