RGD:14744633 Rat Genome Database

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Variant: RGD:14744633 -  Homo sapiens

RGD ID: 14744633
RS ID: rs1580682534
ClinVar ID: CV633050
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HINT1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 130,495,279
GRCh38 5 131,159,586
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005340.7:c.242G>T
NG_032998.1:g.10763G>T
NC_000005.10:g.131159586C>A
NC_000005.9:g.130495279C>A
More... 		07/10/2018 missense variant uncertain significance 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:NM_005340
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEIAKAQVARPGGDTIFGKIIRKEIPAKIIFEDDRCLAFHDISPQAPTHFLVIPKKHISQISVAEDDDESLLGHLMIV
VKKCAADLGLNKGYRMVVNEGSDGGQSVYHVHLHVLGGRQMHWPPG*

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

Gene Symbol:HINT1
Accession:NR_134494
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_024610
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 RCV000824227 CLINVAR
dbSNP (RS) rs1580682534 CLINVAR
MedGen C5700127 CLINVAR
NCBI Gene HINT1 CLINVAR
OMIM 137200 CLINVAR
  601314 CLINVAR
SNOMED CT 711406009 CLINVAR