chr15:89321743:T>C Detail (hg38) (POLG, POLGARF)

Information

Genome

Assembly Position
hg19 chr15:89,864,974-89,864,974 View the variant detail on this assembly version.
hg38 chr15:89,321,743-89,321,743

HGVS

Type Transcript Protein
RefSeq NM_001126131.1:c.2591A>G NP_001119603.1:p.Asn864Ser
NM_002693.2:c.2591A>G NP_002684.1:p.Asn864Ser
Ensemble ENST00000268124.11:c.2591A>G ENST00000268124.11:p.Asn864Ser
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 2003-07-01 no assertion criteria provided mitochondrial DNA depletion syndrome 4b germline Detail
Pathogenic 2023-07-17 criteria provided, single submitter Progressive sclerosing poliodystrophy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser) AND Mitochondrial DNA depletion syndrome 4b ClinVar Detail
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser) AND Progressive sclerosing poliodystrophy 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
rs121918050 dbSNP
Genome
hg38
Position
chr15:89,321,743-89,321,743
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser