chrX:77373600:AAG> Detail (hg19) (PGK1)

Information

Genome

Assembly Position
hg19 chrX:77,373,600-77,373,602
hg38 chrX:78,118,103-78,118,105 

HGVS

Type Transcript Protein
RefSeq NM_000291.3:c.574_576delAAG NP_000282.1:p.Lys192del
Ensemble ENST00000373316.5:c.574_576delAAG ENST00000373316.5:p.Lys192del
ENST00000644362.1:c.490_492delAAG ENST00000644362.1:p.Lys164del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.361 phosphoglycerate kinase 1 deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs431905502 dbSNP
Genome
hg19
Position
chrX:77,373,600-77,373,602
Variant Type
snv
Reference Allele
AAG
Alternative Allele
-
Genome browser