RGD:8690344 Rat Genome Database

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Variant: RGD:8690344 -  Homo sapiens

RGD ID: 8690344
RS ID: rs3740485
ClinVar ID: CV140292
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TWNK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 102,750,621
GRCh38 10 100,990,864
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.8329C>T
NC_000010.11:g.100990864C>T
NC_000010.10:g.102750621C>T
NM_021830.3:c.1593-5C>T
More... 		03/06/2019 intron variant benign AllHighlyPenetrant; Epilepsy, progressive myoclonic, type 5; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); none provided; 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_001163813
Location:INTRON

Gene Symbol:TWNK
Accession:NM_001163814
Location:INTRON

Gene Symbol:TWNK
Accession:NM_001368275
Location:INTRON

Gene Symbol:TWNK
Accession:NM_001163812
Location:INTRON

Gene Symbol:TWNK
Accession:NM_021830
Location:INTRON

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000124041 CLINVAR
  RCV000273221 CLINVAR
  RCV000328346 CLINVAR
  RCV000331870 CLINVAR
  RCV000386399 CLINVAR
  RCV000676302 CLINVAR
dbSNP (RS) rs3740485 CLINVAR
MedGen C1836439 CLINVAR
  C1843851 CLINVAR
  C1849096 CLINVAR
  C3661900 CLINVAR
  C5575375 CLINVAR
  CN169374 CLINVAR
NCBI Gene PEO1 CLINVAR
OMIM 271245 CLINVAR
  606075 CLINVAR
  607459 CLINVAR
  609286 CLINVAR
SNOMED CT 724227000 CLINVAR