chrX:154536002:C>T Detail (hg38) (G6PD)

Information

Genome

Assembly Position
hg19 chrX:153,764,217-153,764,217 View the variant detail on this assembly version.
hg38 chrX:154,536,002-154,536,002

HGVS

Type Transcript Protein
RefSeq NM_000402.4:c.202G>A NP_000393.4:p.Val68Met
NM_001042351.2:c.202G>A NP_001035810.1:p.Val68Met
Ensemble ENST00000369620.6:c.202G>A ENST00000369620.6:p.Val68Met
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 tgv239541460 TogoVar
COSMIC COSM4810058 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2000-03-31 no assertion criteria provided G6PD deficiency germline Detail
other 2013-10-24 no assertion criteria provided germline Detail
Pathogenic Likely pathogenic 2024-04-04 criteria provided, multiple submitters, no conflicts Anemia, nonspherocytic hemolytic, due to G6PD deficiency germline maternal unknown Detail
Pathogenic 2023-07-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-02-13 criteria provided, multiple submitters, no conflicts G6PD deficiency germline unknown Detail
Pathogenic 2018-07-02 criteria provided, single submitter not specified germline Detail
Pathogenic criteria provided, single submitter Anemia, nonspherocytic hemolytic, due to G6PD deficiency,G6PD deficiency germline Detail
Pathogenic criteria provided, single submitter Anemia, nonspherocytic hemolytic, due to G6PD deficiency,G6PD deficiency germline Detail
Pathogenic 2023-11-20 criteria provided, single submitter Inborn genetic diseases germline Detail
Likely pathogenic Established risk allele 2022-12-23 criteria provided, multiple submitters, no conflicts Anemia, nonspherocytic hemolytic, due to G6PD deficiency inherited unknown Detail
Likely pathogenic 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
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 2023-10-31 criteria provided, single submitter Malaria, susceptibility to unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.012 anemia Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54... BeFree 24934404 Detail
<0.001 anemia Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54... BeFree 24934404 Detail
0.240 Anemia, nonspherocytic hemolytic, due to G6PD deficiency Nucleotide variability at G6pd and the signature of malarial selection in humans... UNIPROT 12524354 Detail
<0.001 anemia Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54... BeFree 24934404 Detail
0.120 FAVISM, SUSCEPTIBILITY TO NA CLINVAR Detail
0.240 Anemia, nonspherocytic hemolytic, due to G6PD deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
G6PD A- AND G6PD deficiency ClinVar Detail
NM_000402.4(G6PD):c.292G>A (p.Val98Met) AND G6PD ASAHI ClinVar Detail
NM_000402.4(G6PD):c.292G>A (p.Val98Met) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar Detail
NM_000402.4(G6PD):c.292G>A (p.Val98Met) AND not provided ClinVar Detail
NM_000402.4(G6PD):c.292G>A (p.Val98Met) AND G6PD deficiency ClinVar Detail
NM_000402.4(G6PD):c.292G>A (p.Val98Met) AND not specified ClinVar Detail
NM_000402.4(G6PD):c.292G>A (p.Val98Met) AND multiple conditions ClinVar Detail
NM_000402.4(G6PD):c.292G>A (p.Val98Met) AND multiple conditions ClinVar Detail
NM_000402.4(G6PD):c.292G>A (p.Val98Met) AND Inborn genetic diseases ClinVar Detail
G6PD A- AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar Detail
NM_001360016.2(G6PD):c.[202G>A;871G>A] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar Detail
NM_001360016.2(G6PD):c.[1264C>G;202G>A376A>G] AND Anemia, nonspherocytic hemolytic, due to G6PD defi... 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.[143T>C;202G>A] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar Detail
NM_000402.4(G6PD):c.292G>A (p.Val98Met) AND Malaria, susceptibility to ClinVar Detail
Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge... DisGeNET Detail
Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge... DisGeNET Detail
Nucleotide variability at G6pd and the signature of malarial selection in humans. DisGeNET Detail
Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge... DisGeNET Detail
NA 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
rs1050828 dbSNP
Genome
hg38
Position
chrX:154,536,002-154,536,002
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
6613
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)
86653
Allele Counts in All Race (ExAC)
997
Heterozygous Counts in All Race (ExAC)
699
Homozygous Counts in All Race (ExAC)
44
Allele Frequency in All Race (ExAC)
0.011505660508003186
East Asian Hemizygous Counts (ExAC)
0
Hemizygous Counts in All Race (ExAC)
210
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