rs397514492 Rat Genome Database

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Variant: rs397514492 -  Homo sapiens

RGD ID: 8569986
RS ID: rs397514492
ClinVar ID: CV45892
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HINT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 130,498,297
GRCh38 5 131,162,604
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_032998.1:g.7745C>T
NC_000005.10:g.131162604G>A
NC_000005.9:g.130498297G>A
NP_005331.1:p.Gln62Ter
More... 		12/18/2020 non-coding transcript variant|nonsense|stop-gain pathogenic childhood <1 / 1 000 000 Gamstorp-Wohlfart syndrome; MYOKYMIA, MYOTONIA, AND MUSCLE WASTING; Neuromyotonia and axonal neuropathy, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HINT1
Accession:XM_047417133
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEIAKAQVARPGGDTIFGKIIRKEIPAKIIFEDDRCLAFHDISPQAPTHFLVIPKKHIS*ISVAEDDDESVITKEKPE
KPLGLQLPSCFPKLLHHFVSHQQ*

Gene Symbol:HINT1
Accession:NM_005340
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEIAKAQVARPGGDTIFGKIIRKEIPAKIIFEDDRCLAFHDISPQAPTHFLVIPKKHIS*ISVAEDDDESLLGHLMIV
GKKCAADLGLNKGYRMVVNEGSDGGQSVYHVHLHVLGGRQMHWPPG*

Gene Symbol:HINT1
Accession:NR_073488
Location:EXON;NON-CODING

Gene Symbol:HINT1
Accession:NR_024610
Location:EXON;NON-CODING

Gene Symbol:HINT1
Accession:NR_134495
Location:EXON;NON-CODING

Gene Symbol:HINT1
Accession:NR_134494
Location:EXON;NON-CODING

Gene Symbol:HINT1
Accession:NR_024611
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:1851512   PMID:22961002  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000030857 CLINVAR
  RCV002408484 CLINVAR
dbSNP (RS) rs397514492 CLINVAR
MedGen C0950123 CLINVAR
  C5700127 CLINVAR
NCBI Gene HINT1 CLINVAR
OMIM 137200 CLINVAR
  601314 CLINVAR
OMIM Allele 601314.0006 CLINVAR
SNOMED CT 711406009 CLINVAR