chrX:154532269:C>G Detail (hg38) (G6PD)

Information

Genome

Assembly Position
hg19 chrX:153,760,484-153,760,484 View the variant detail on this assembly version.
hg38 chrX:154,532,269-154,532,269

HGVS

Type Transcript Protein
RefSeq NM_000402.4:c.1376G>C NP_000393.4:p.Arg459Pro
NM_001042351.2:c.1376G>C NP_001035810.1:p.Arg459Pro
Ensemble ENST00000369620.6:c.1514G>C ENST00000369620.6:p.Arg505Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 305900 OMIM
HGNC 4057 HGNC
Ensembl ENSG00000160211 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
other 2017-05-24 no assertion criteria provided germline Detail
Pathogenic 2015-08-31 criteria provided, single submitter not provided germline Detail
Pathogenic 2019-04-05 criteria provided, single submitter G6PD deficiency germline Detail
Pathogenic 2023-06-08 criteria provided, multiple submitters, no conflicts Anemia, nonspherocytic hemolytic, due to G6PD deficiency germline unknown Detail
Pathogenic 2023-03-22 criteria provided, single submitter Malaria, susceptibility to unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Anemia, nonspherocytic hemolytic, due to G6PD deficiency G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutat... UNIPROT 11857737 Detail
0.240 Anemia, nonspherocytic hemolytic, due to G6PD deficiency Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spre... UNIPROT 8364584 Detail
0.243 Deficiency of glucose-6-phosphate dehydrogenase In the present investigation, DNA samples from 17 patients with G6PD deficiency ... BeFree 9891846 Detail
0.240 Anemia, nonspherocytic hemolytic, due to G6PD deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) AND G6PD COSENZA ClinVar Detail
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) AND not provided ClinVar Detail
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) AND G6PD deficiency ClinVar Detail
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) AND Anemia, nonspherocytic hemolytic, due to G6PD deficien... ClinVar Detail
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) AND Malaria, susceptibility to ClinVar Detail
G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations. DisGeNET Detail
Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the co... DisGeNET Detail
In the present investigation, DNA samples from 17 patients with G6PD deficiency from Tianjin area in... DisGeNET 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
rs72554665 dbSNP
Genome
hg38
Position
chrX:154,532,269-154,532,269
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
6387
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
82742
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.2085760556911846E-5
East Asian Hemizygous Counts (ExAC)
0
Hemizygous Counts in All Race (ExAC)
0
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