RGD:8596506 Rat Genome Database

Variant: RGD:8596506 - Homo sapiens

RGD ID:

8596506

RS ID:

rs111033573

ClinVar ID:

CV19657

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

TWNK

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	10	102,749,042
GRCh38	10	100,989,285

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.6750G>A NC_000010.11:g.100989285G>A NC_000010.10:g.102749042G>A NP_068602.2:p.Ala359Thr More...	01/03/2022	2kb upstream variant\|intron\|intron variant\|missense variant	pathogenic\|likely pathogenic	Mitochondrial diseases; mitochondrial disorder; none provided; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3

Disease Annotations Click to see Annotation Detail View

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

mitochondrial metabolism disease (IAGP)

Variant Details

Variant Transcripts

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

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

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

Gene Symbol:	TWNK
Accession:	NM_001163812
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	359

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

Gene Symbol:	TWNK
Accession:	NM_021830
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	359

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

Gene Symbol:	TWNK
Accession:	NR_160738
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_160740
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:11431692	PMID:20659899	PMID:24076137	PMID:25741868	PMID:28492532	PMID:28812649

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000004881	CLINVAR
	RCV000508874	CLINVAR
	RCV002512779	CLINVAR
dbSNP (RS)	rs111033573	CLINVAR
MedGen	C0751651	CLINVAR
	C1836439	CLINVAR
	C3661900	CLINVAR
NCBI Gene	PEO1	CLINVAR
OMIM	606075	CLINVAR
	609286	CLINVAR
OMIM Allele	606075.0003	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:8596506 - Homo sapiens

Imported Disease Annotations - ClinVar