RGD:9686465 Rat Genome Database

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Variant: RGD:9686465 -  Homo sapiens

RGD ID: 9686465
RS ID: rs556445621
ClinVar ID: CV171767
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TWNK  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 102,749,139
GRCh38 10 100,989,382
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_012624.1:g.6847G>A
NC_000010.11:g.100989382G>A
NC_000010.10:g.102749139G>A
NP_068602.2:p.Arg391His
More... 		11/03/2022 2kb upstream variant|intron variant pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|not provided adolescent|childhood <1 / 1 000 000 Epilepsy, progressive myoclonic, type 5; Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance; 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_001163814
Location:5UTRS;INTRON

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

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

Gene Symbol:TWNK
Accession:NM_001163812
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 391
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWVLLRSGYPLRILLPLRGEWMGRRGLPRNLAPGPPRRRYRKETLQALDMPVLPVTATEIRQYLRGHGIPFQDGHSCLRA
LSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEGSWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNR
AIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPR
PSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKL
FARKLNPKRCFLVRPGDQQPRPLEALNGGFNLSRILRTALPAWHKSIVSFRQLREEVLGELSNVEQAAGLHWSRFPDLNR
ILKGHRKGELTVFTGPTGSGKTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRFED
LPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIGVFRKFATDNNCHVTLVIHPR
KEDDDKELQTASIFGSAKVSGL*

Gene Symbol:TWNK
Accession:NM_021830
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 391
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWVLLRSGYPLRILLPLRGEWMGRRGLPRNLAPGPPRRRYRKETLQALDMPVLPVTATEIRQYLRGHGIPFQDGHSCLRA
LSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEGSWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNR
AIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPR
PSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKL
FARKLNPKRCFLVRPGDQQPRPLEALNGGFNLSRILRTALPAWHKSIVSFRQLREEVLGELSNVEQAAGLHWSRFPDLNR
ILKGHRKGELTVFTGPTGSGKTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRFED
LPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIGVFRKFATDNNCHVTLVIHPR
KEDDDKELQTASIFGSAKASQEADNVLILQDRKLVTGPGKRYLQVSKNRFDGDVGVFPLEFNKNSLTFSIPPKNKARLKK
IKDDTGPVAKKPSSGKKGATTQNSEICSGQAPTPDQPDTSKRSK*

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_160740
Location:EXON;NON-CODING

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

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

Variant Samples
Additional References at PubMed
PMID:25355836   PMID:25741868   PMID:28492532   PMID:32619254   PMID:33095980  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000149470 CLINVAR
  RCV000290037 CLINVAR
  RCV000305281 CLINVAR
  RCV000345001 CLINVAR
  RCV000403533 CLINVAR
  RCV002516005 CLINVAR
  RCV002516006 CLINVAR
dbSNP (RS) rs556445621 CLINVAR
MedGen C0685838 CLINVAR
  C1836439 CLINVAR
  C1843851 CLINVAR
  C1849096 CLINVAR
  C3661900 CLINVAR
  C4015307 CLINVAR
  C5575375 CLINVAR
NCBI Gene C10orf2 CLINVAR
OMIM 271245 CLINVAR
  606075 CLINVAR
  607459 CLINVAR
  609286 CLINVAR
  616138 CLINVAR
OMIM Allele 606075.0016 CLINVAR
SNOMED CT 724227000 CLINVAR
  93466004 CLINVAR