RGD:13211996 Rat Genome Database

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Variant: RGD:13211996 -  Homo sapiens

RGD ID: 13211996
RS ID: rs777201941
ClinVar ID: CV425764
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 75,932,306
GRCh38 7 76,302,989
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_248t1:c.277G>A
LRG_248:g.5432G>A
NG_008995.1:g.5432G>A
NC_000007.14:g.76302989G>A
More... 		12/31/2019 missense variant likely benign|conflicting interpretations of pathogenicity|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:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPPAAIESPAVAAPAYSRALSRQ
LSSGVSEIRHTANRWRVSLDVNHFAPDELTVKTKDGVVEITGKHEERQDEHGYISRCFTRKYTLPPGVDPTQVSSSLSPE
GTLTVEAPMPKLATQSNEITIPVTFESRAQLGGPEAAKSDETAAK*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000498200 CLINVAR
  RCV001084552 CLINVAR
  RCV001172550 CLINVAR
dbSNP (RS) rs777201941 CLINVAR
MedGen C0007959 CLINVAR
  C1847823 CLINVAR
  C3661900 CLINVAR
NCBI Gene HSPB1 CLINVAR
OMIM 602195 CLINVAR
  606595 CLINVAR
SNOMED CT 50548001 CLINVAR