RGD:13488021 Rat Genome Database

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Variant: RGD:13488021 -  Homo sapiens

RGD ID: 13488021
RS ID: rs780156681
ClinVar ID: CV443680
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HINT1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 130,495,156
GRCh38 5 131,159,463
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032998.1:g.10886A>T
NC_000005.10:g.131159463T>A
NC_000005.9:g.130495156T>A
NP_005331.1:p.His122Leu
More... 		08/28/2019 missense variant uncertain significance Gamstorp-Wohlfart syndrome; MYOKYMIA, MYOTONIA, AND MUSCLE WASTING; Neuromyotonia and axonal neuropathy, autosomal recessive; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HINT1
Accession:NM_005340
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEIAKAQVARPGGDTIFGKIIRKEIPAKIIFEDDRCLAFHDISPQAPTHFLVIPKKHISQISVAEDDDESLLGHLMIV
GKKCAADLGLNKGYRMVVNEGSDGGQSVYHVHLHVLGGRQMLWPPG*

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

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

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

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

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

Gene Symbol:HINT1
Accession:XM_047417133
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000523424 CLINVAR
  RCV001210096 CLINVAR
  RCV002456006 CLINVAR
dbSNP (RS) rs780156681 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  C5700127 CLINVAR
NCBI Gene HINT1 CLINVAR
OMIM 137200 CLINVAR
  601314 CLINVAR
SNOMED CT 711406009 CLINVAR