RGD:13610143 Rat Genome Database

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Variant: RGD:13610143 -  Homo sapiens

RGD ID: 13610143
RS ID: rs557327165
ClinVar ID: CV522820
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPB1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 75,932,145
GRCh38 7 76,302,828
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.76302828C>T
NC_000007.13:g.75932145C>T
LRG_248:g.5271C>T
NG_008995.1:g.5271C>T
More... 		02/01/2022 missense variant pathogenic|likely pathogenic|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; 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

Variant Details
Variant Transcripts
Gene Symbol:HSPB1
Accession:NM_001540
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLLEEWSQWLGGSSWPGYVRPLPPAAIESPAVAAPAYSRALSRQ
LSSGVSEIRHTADRWRVSLDVNHFAPDELTVKTKDGVVEITGKHEERQDEHGYISRCFTRKYTLPPGVDPTQVSSSLSPE
GTLTVEAPMPKLATQSNEITIPVTFESRAQLGGPEAAKSDETAAK*
Variant Samples
Additional References at PubMed
PMID:18832141   PMID:21971574   PMID:22176143   PMID:22484489   PMID:23379525   PMID:24607769   PMID:24719117   PMID:25741868   PMID:25965061   PMID:25999205   PMID:26077850   PMID:26467025  
PMID:27816334   PMID:28144995   PMID:28492532   PMID:28595321   PMID:29381233   PMID:30758704   PMID:31573509   PMID:32301006   PMID:32323160  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000641079 CLINVAR
  RCV000789058 CLINVAR
  RCV001197515 CLINVAR
  RCV001796974 CLINVAR
  RCV002060745 CLINVAR
  RCV003937934 CLINVAR
dbSNP (RS) rs557327165 CLINVAR
MedGen C0007959 CLINVAR
  C1847823 CLINVAR
  C2608087 CLINVAR
  C3661900 CLINVAR
NCBI Gene HSPB1 CLINVAR
OMIM 602195 CLINVAR
  606595 CLINVAR
  608634 CLINVAR
SNOMED CT 50548001 CLINVAR