chr15:89320883:T>C Detail (hg38) (POLG, POLGARF)

Information

Genome

Assembly Position
hg19 chr15:89,864,114-89,864,114 View the variant detail on this assembly version.
hg38 chr15:89,320,883-89,320,883

HGVS

Type Transcript Protein
RefSeq NM_001126131.1:c.2864A>G NP_001119603.1:p.Tyr955Cys
NM_002693.2:c.2864A>G NP_002684.1:p.Tyr955Cys
Ensemble ENST00000268124.11:c.2864A>G ENST00000268124.11:p.Tyr955Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2004-09-04 no assertion criteria provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 germline Detail
Pathogenic 2017-04-07 no assertion criteria provided Mitochondrial disease germline Detail
Pathogenic 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2024-01-19 criteria provided, multiple submitters, no conflicts Progressive sclerosing poliodystrophy germline Detail
Pathogenic 2023-11-21 criteria provided, single submitter mitochondrial DNA depletion syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 NA CLINVAR Detail
0.256 Mitochondrial Diseases A POLG Y955C point mutation causes human chronic progressive external ophthalmop... BeFree 17310215 Detail
0.140 Parkinsonian Disorders Collectively, these results offer a biochemical link between the observed oxidat... BeFree 17725985 Detail
0.140 Parkinsonian Disorders Neuromelanin MRI in a family with mitochondrial parkinsonism harboring a Y955C m... BeFree 23673011 Detail
0.158 chronic progressive external ophthalmoplegia The Y955C substitution in POLG leads to autosomal dominant progressive external ... BeFree 17725985 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) AND Progressive external ophthalmoplegia with mitochondria... ClinVar Detail
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) AND Mitochondrial disease ClinVar Detail
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) AND not provided ClinVar Detail
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) AND Progressive sclerosing poliodystrophy ClinVar Detail
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) AND Mitochondrial DNA depletion syndrome ClinVar Detail
NA DisGeNET Detail
A POLG Y955C point mutation causes human chronic progressive external ophthalmoplegia (CPEO), a mito... DisGeNET Detail
Collectively, these results offer a biochemical link between the observed oxidative stress in model ... DisGeNET Detail
Neuromelanin MRI in a family with mitochondrial parkinsonism harboring a Y955C mutation in POLG1. DisGeNET Detail
The Y955C substitution in POLG leads to autosomal dominant progressive external ophthalmoplegia (PEO... 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
rs113994099 dbSNP
Genome
hg38
Position
chr15:89,320,883-89,320,883
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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