chr15:89868751:G>A Detail (hg19) (POLG, POLGARF)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr15:89,868,751-89,868,751
hg38	chr15:89,325,520-89,325,520 View the variant detail on this assembly version.

HGVS

POLG

Type	Transcript	Protein
RefSeq	NM_001126131.1:c.1879C>T	NP_001119603.1:p.Arg627Trp
	NM_002693.2:c.1879C>T	NP_002684.1:p.Arg627Trp
Ensemble	ENST00000442287.6:c.1879C>T	ENST00000442287.6:p.Arg627Trp
	ENST00000268124.11:c.1879C>T	ENST00000268124.11:p.Arg627Trp
	ENST00000636937.2:c.1879C>T	ENST00000636937.2:p.Arg627Trp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

POLG

Type	Database	ID	Link
Gene	MIM	174763	OMIM
	HGNC	9179	HGNC
	Ensembl	ENSG00000140521	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM1735543	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2003-02-01	no assertion criteria provided	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	germline	Detail
Pathogenic	2023-10-13	criteria provided, multiple submitters, no conflicts	Progressive sclerosing poliodystrophy	germline unknown	Detail
Pathogenic	2021-06-11	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2024-03-08	criteria provided, single submitter	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	germline	Detail
Pathogenic	2024-03-08	criteria provided, single submitter	Primary familial dilated cardiomyopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.481	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp) AND Sensory ataxic neuropathy, dysarthria, and ophthalmopa...	ClinVar	Detail
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp) AND Progressive sclerosing poliodystrophy	ClinVar	Detail
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp) AND not provided	ClinVar	Detail
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp) AND Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic...	ClinVar	Detail
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp) AND Primary familial dilated cardiomyopathy	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs121918046 dbSNP
Genome: hg19
Position: chr15:89,868,751-89,868,751
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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