RGD:38474113 Rat Genome Database

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Variant: RGD:38474113 -  Homo sapiens

RGD ID: 38474113
RS ID: rs104894020
ClinVar ID: CV933998
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPB1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 75,933,416
GRCh38 7 76,304,099
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.544C>A
LRG_248:g.6542C>A
NC_000007.14:g.76304099C>A
NC_000007.13:g.75933416C>A
More... 		10/16/2019 missense variant uncertain significance Charcot-Marie-Tooth disease type 2F; Charcot-Marie-Tooth disease, neuronal, Type 2F; Charcot-Marie-Tooth Neuropathy Type 2F; CMT 2F
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HSPB1
Accession:NM_001540
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPPAAIESPAVAAPAYSRALSRQ
LSSGVSEIRHTADRWRVSLDVNHFAPDELTVKTKDGVVEITGKHEERQDEHGYISRCFTRKYTLPPGVDPTQVSSSLSPE
GTLTVEAPMPKLATQSNEITITVTFESRAQLGGPEAAKSDETAAK*
Variant Samples
Additional References at PubMed
PMID:16155736   PMID:18325928   PMID:21785432   PMID:23728742   PMID:27816334   PMID:28492532   PMID:29381233  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001203677 CLINVAR
dbSNP (RS) rs104894020 CLINVAR
MedGen C1847823 CLINVAR
NCBI Gene HSPB1 CLINVAR
OMIM 602195 CLINVAR
  606595 CLINVAR