RGD:8690343 Rat Genome Database

Variant: RGD:8690343 - Homo sapiens

RGD ID:

8690343

RS ID:

rs17113613

ClinVar ID:

CV140291

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

TWNK

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	10	102,749,069
GRCh38	10	100,989,312

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_012624.1:g.6777G>A NC_000010.11:g.100989312G>A NC_000010.10:g.102749069G>A NP_068602.2:p.Val368Ile More...	03/27/2019	2kb upstream variant\|intron variant\|missense variant	benign	AllHighlyPenetrant; Epilepsy, progressive myoclonic, type 5; Familial spastic paraparesis; 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

Disease Annotations Click to see Annotation Detail View

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 (IAGP)

autosomal recessive cerebellar ataxia (IAGP)

hereditary spastic paraplegia (IAGP)

mitochondrial DNA depletion syndrome 7 (IAGP)

sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (IAGP)

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_021830
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	368

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVLLRSGYPLRILLPLRGEWMGRRGLPRNLAPGPPRRRYRKETLQALDMPVLPVTATEIRQYLRGHGIPFQDGHSCLRA LSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEGSWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNR AIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPR PSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKL FARKLNPKRCFLVRPGDQQPRPLEALNGGFNLSRILRTALPAWHKSIISFRQLREEVLGELSNVEQAAGLRWSRFPDLNR ILKGHRKGELTVFTGPTGSGKTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRFED LPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIGVFRKFATDNNCHVTLVIHPR KEDDDKELQTASIFGSAKASQEADNVLILQDRKLVTGPGKRYLQVSKNRFDGDVGVFPLEFNKNSLTFSIPPKNKARLKK IKDDTGPVAKKPSSGKKGATTQNSEICSGQAPTPDQPDTSKRSK*

Gene Symbol:	TWNK
Accession:	NM_001163812
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	368

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVLLRSGYPLRILLPLRGEWMGRRGLPRNLAPGPPRRRYRKETLQALDMPVLPVTATEIRQYLRGHGIPFQDGHSCLRA LSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEGSWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNR AIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPR PSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKL FARKLNPKRCFLVRPGDQQPRPLEALNGGFNLSRILRTALPAWHKSIISFRQLREEVLGELSNVEQAAGLRWSRFPDLNR ILKGHRKGELTVFTGPTGSGKTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRFED LPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIGVFRKFATDNNCHVTLVIHPR KEDDDKELQTASIFGSAKVSGL*

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

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_160739
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:26467025	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000173517	CLINVAR
	RCV000390596	CLINVAR
	RCV000676301	CLINVAR
	RCV001104760	CLINVAR
	RCV001104761	CLINVAR
	RCV001104762	CLINVAR
	RCV001847742	CLINVAR
dbSNP (RS)	rs17113613	CLINVAR
MedGen	C0037773	CLINVAR
	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	39912006	CLINVAR
	724227000	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:8690343 - Homo sapiens

Imported Disease Annotations - ClinVar