chrX:154535963:G>A Detail (hg38) (G6PD)

Information

Genome

Assembly Position
hg19 chrX:153,764,178-153,764,178 View the variant detail on this assembly version.
hg38 chrX:154,535,963-154,535,963

HGVS

Type Transcript Protein
RefSeq NM_000402.4:c.241C>T NP_000393.4:p.Arg81Cys
NM_001042351.2:c.241C>T NP_001035810.1:p.Arg81Cys
Ensemble ENST00000369620.6:c.241C>T ENST00000369620.6:p.Arg81Cys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:0.003
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 tgv67039946 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic congenital dyserythropoietic anemia germline MGS000001
(TMGS000138)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-11-02 criteria provided, multiple submitters, no conflicts Anemia, nonspherocytic hemolytic, due to G6PD deficiency germline inherited 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
Annotation

Annotations

DescrptionSourceLinks
NM_001360016.2(G6PD):c.241C>T (p.Arg81Cys) AND Anemia, nonspherocytic hemolytic, due to G6PD deficie... 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

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
-
Genome
hg38
Position
chrX:154,535,963-154,535,963
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1152
Mean of sample read depth (HGVD)
38.56
Standard deviation of sample read depth (HGVD)
20.05
Number of reference allele (HGVD)
2302
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.680555555555555E-4
Gene Symbol (HGVD)
G6PD
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs138687036
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.003
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
38
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12840
East Asian Chromosome Counts (ExAC)
6496
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.539408866995074E-4
Chromosome Counts in All Race (ExAC)
83758
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.581747415172282E-5
East Asian Hemizygous Counts (ExAC)
0
Hemizygous Counts in All Race (ExAC)
0
Genome browser