chrX:154534419:G>A Detail (hg38) (G6PD)

Information

Genome

Assembly Position
hg19 chrX:153,762,634-153,762,634 View the variant detail on this assembly version.
hg38 chrX:154,534,419-154,534,419

HGVS

Type Transcript Protein
RefSeq NM_000402.4:c.563C>T NP_000393.4:p.Ser188Phe
NM_001042351.2:c.563C>T NP_001035810.1:p.Ser188Phe
Ensemble ENST00000369620.6:c.563C>T ENST00000369620.6:p.Ser188Phe
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 Likely 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 tgv417454617 TogoVar
COSMIC COSM3973479 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
other 2018-05-11 no assertion criteria provided germline Detail
other 2018-05-11 no assertion criteria provided germline Detail
other 2018-05-11 no assertion criteria provided germline Detail
Pathogenic 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic Likely pathogenic 2024-04-23 criteria provided, multiple submitters, no conflicts Anemia, nonspherocytic hemolytic, due to G6PD deficiency germline inherited maternal unknown Detail
Pathogenic 2023-10-05 criteria provided, multiple submitters, no conflicts G6PD deficiency germline unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to paternal unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to paternal unknown Detail
Pathogenic 2016-12-14 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2017-12-30 no assertion criteria provided Susceptibility to angioedema induced by ACE inhibitors unknown Detail
Pathogenic criteria provided, single submitter G6PD deficient hemolytic anemia germline Detail
Pathogenic 2020-04-14 criteria provided, single submitter Hemolytic anemia, G6PD deficient (favism) germline Detail
Pathogenic 2023-10-31 criteria provided, single submitter Malaria, susceptibility to germline unknown Detail
Likely pathogenic 2019-04-01 criteria provided, single submitter germline Detail
Uncertain significance 2022-08-12 criteria provided, single submitter Anemia, nonspherocytic hemolytic, due to G6PD deficiency unknown Detail
Uncertain significance 2022-08-12 criteria provided, single submitter Anemia, nonspherocytic hemolytic, due to G6PD deficiency unknown Detail
Uncertain significance 2022-08-12 criteria provided, single submitter Anemia, nonspherocytic hemolytic, due to G6PD deficiency unknown Detail
Likely pathogenic 2022-08-12 criteria provided, single submitter Anemia, nonspherocytic hemolytic, due to G6PD deficiency unknown Detail
Pathogenic 2023-12-13 criteria provided, single submitter G6PD-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Anemia, nonspherocytic hemolytic, due to G6PD deficiency NA CLINVAR Detail
0.003 Cerebrovascular accident G6PD Mediterranean S188F codon mutation is common among Saudi sickle cell patien... BeFree 19594365 Detail
0.240 Anemia, nonspherocytic hemolytic, due to G6PD deficiency Two point mutations are responsible for G6PD polymorphism in Sardinia. UNIPROT 2912069 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND G6PD MEDITERRANEAN ClinVar Detail
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND G6PD SASSARI ClinVar Detail
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND G6PD CAGLIARI ClinVar Detail
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND not provided ClinVar Detail
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND Anemia, nonspherocytic hemolytic, due to G6PD deficienc... ClinVar Detail
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND G6PD deficiency ClinVar Detail
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND multiple conditions ClinVar Detail
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND multiple conditions ClinVar Detail
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND Inborn genetic diseases ClinVar Detail
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND Susceptibility to angioedema induced by ACE inhibitors ClinVar Detail
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND G6PD deficient hemolytic anemia ClinVar Detail
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND Hemolytic anemia, G6PD deficient (favism) ClinVar Detail
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND Malaria, susceptibility to ClinVar Detail
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND Decreased glucose-6-phosphate dehydrogenase level in bl... ClinVar Detail
NM_001360016.2(G6PD):c.[202G>A;563C>T] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar Detail
NM_001360016.2(G6PD):c.[202G>A;376A>G563C>T] AND Anemia, nonspherocytic hemolytic, due to G6PD defic... ClinVar Detail
NM_001360016.2(G6PD):c.[376A>G;563C>T] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar Detail
NM_001360016.2(G6PD):c.[143T>C;563C>T] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar Detail
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND G6PD-related disorder ClinVar Detail
NA DisGeNET Detail
G6PD Mediterranean S188F codon mutation is common among Saudi sickle cell patients and increases the... DisGeNET Detail
Two point mutations are responsible for G6PD polymorphism in Sardinia. 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
rs5030868 dbSNP
Genome
hg38
Position
chrX:154,534,419-154,534,419
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
6631
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)
87438
Allele Counts in All Race (ExAC)
232
Heterozygous Counts in All Race (ExAC)
84
Homozygous Counts in All Race (ExAC)
3
Allele Frequency in All Race (ExAC)
0.002653308630115053
East Asian Hemizygous Counts (ExAC)
0
Hemizygous Counts in All Race (ExAC)
142
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