RGD:38466363 Rat Genome Database

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Variant: RGD:38466363 -  Homo sapiens

RGD ID: 38466363
RS ID: rs1803072212
ClinVar ID: CV933999
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPB1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 75,933,423
GRCh38 7 76,304,106
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_248:g.6549C>T
LRG_248t1:c.551C>T
NM_001540.5:c.551C>T
NC_000007.13:g.75933423C>T
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: T to I (nonsynonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPPAAIESPAVAAPAYSRALSRQ
LSSGVSEIRHTADRWRVSLDVNHFAPDELTVKTKDGVVEITGKHEERQDEHGYISRCFTRKYTLPPGVDPTQVSSSLSPE
GTLTVEAPMPKLATQSNEITIPVIFESRAQLGGPEAAKSDETAAK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001212770 CLINVAR
dbSNP (RS) rs1803072212 CLINVAR
MedGen C1847823 CLINVAR
NCBI Gene HSPB1 CLINVAR
OMIM 602195 CLINVAR
  606595 CLINVAR