RGD:11652527 Rat Genome Database

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Variant: RGD:11652527 -  Homo sapiens

RGD ID: 11652527
RS ID: rs886046627
ClinVar ID: CV309185
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TWNK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 102,747,545
GRCh38 10 100,987,788
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012624.1:g.5253C>T
NC_000010.11:g.100987788C>T
NC_000010.10:g.102747545C>T
NM_001163812.2:c.-423C>T
More... 		06/14/2016 5 prime utr variant uncertain significance Epilepsy, progressive myoclonic, type 5; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis; OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPOACUSIS, AND ATHETOSIS; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3; SCA8 (formerly); SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; Spinocerebellar ataxia 8 (formerly); Spinocerebellar ataxia infantile with sensory neuropathy; Spinocerebellar ataxia, autosomal recessive; Spinocerebellar Ataxia, Recessive

Variant Details
Variant Transcripts
Gene Symbol:TWNK
Accession:NM_021830
Location:5UTRS;EXON

Gene Symbol:TWNK
Accession:NM_001163812
Location:5UTRS;EXON

Gene Symbol:TWNK
Accession:NM_001163813
Location:5UTRS;INTRON

Gene Symbol:TWNK
Accession:NM_001163814
Location:5UTRS;INTRON

Gene Symbol:TWNK
Accession:NM_001368275
Location:5UTRS;INTRON

Gene Symbol:TWNK
Accession:NR_160738
Location:EXON;NON-CODING

Gene Symbol:TWNK
Accession:NR_160740
Location:EXON;NON-CODING

Gene Symbol:TWNK
Accession:NR_160741
Location:EXON;NON-CODING

Gene Symbol:TWNK
Accession:NR_160742
Location:EXON;NON-CODING

Gene Symbol:TWNK
Accession:NR_160739
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000305401 CLINVAR
  RCV000343931 CLINVAR
  RCV000394944 CLINVAR
  RCV000394946 CLINVAR
dbSNP (RS) rs886046627 CLINVAR
MedGen C1836439 CLINVAR
  C1843851 CLINVAR
  C1849096 CLINVAR
  C5575375 CLINVAR
NCBI Gene TWNK CLINVAR
OMIM 271245 CLINVAR
  606075 CLINVAR
  607459 CLINVAR
  609286 CLINVAR
SNOMED CT 724227000 CLINVAR