chrX:77373643:G>C Detail (hg19) (PGK1)

Information

Genome

Assembly Position
hg19 chrX:77,373,643-77,373,643
hg38 chrX:78,118,146-78,118,146 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000291.3:c.617G>C NP_000282.1:p.Arg206Pro
Ensemble ENST00000373316.5:c.617G>C ENST00000373316.5:p.Arg206Pro
ENST00000644362.1:c.533G>C ENST00000644362.1:p.Arg178Pro
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 311800 OMIM
HGNC 8896 HGNC
Ensembl ENSG00000102144 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 1980-09-01 no assertion criteria provided Glycogen storage disease due to phosphoglycerate kinase 1 deficiency germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.361 phosphoglycerate kinase 1 deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000291.4(PGK1):c.617G>C (p.Arg206Pro) AND Glycogen storage disease due to phosphoglycerate kinase... 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
rs137852529 dbSNP
Genome
hg19
Position
chrX:77,373,643-77,373,643
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser