chrX:153761337:C>T Detail (hg19) (G6PD)

Information

Genome

Assembly Position
hg19 chrX:153,761,337-153,761,337
hg38 chrX:154,533,122-154,533,122 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000402.4:c.871G>A NP_000393.4:p.Val291Met
NM_001042351.2:c.871G>A NP_001035810.1:p.Val291Met
Ensemble ENST00000369620.6:c.1009G>A ENST00000369620.6:p.Val337Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.003

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 tgv67039724 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
other 2017-05-24 no assertion criteria provided germline Detail
Pathogenic Likely pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts Anemia, nonspherocytic hemolytic, due to G6PD deficiency germline maternal unknown Detail
Pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts G6PD deficiency germline Detail
Pathogenic 2023-06-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-10-20 criteria provided, single submitter Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to unknown Detail
Pathogenic 2021-10-20 criteria provided, single submitter Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to unknown Detail
Pathogenic criteria provided, single submitter G6PD deficient hemolytic anemia germline Detail
Pathogenic 2014-09-07 criteria provided, single submitter Inborn genetic diseases germline 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
Pathogenic 2023-10-29 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 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND G6PD VIANGCHAN ClinVar Detail
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND G6PD JAMMU ClinVar Detail
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND Anemia, nonspherocytic hemolytic, due to G6PD deficienc... ClinVar Detail
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND G6PD deficiency ClinVar Detail
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND not provided ClinVar Detail
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND multiple conditions ClinVar Detail
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND multiple conditions ClinVar Detail
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND G6PD deficient hemolytic anemia ClinVar Detail
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND Inborn genetic diseases 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.[376A>G;871G>A] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar Detail
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND Malaria, susceptibility to ClinVar 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
rs137852327 dbSNP
Genome
hg19
Position
chrX:153,761,337-153,761,337
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs137852327
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12841
East Asian Chromosome Counts (ExAC)
6595
East Asian Allele Counts (ExAC)
17
East Asian Heterozygous Counts (ExAC)
11
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.002577710386656558
Chromosome Counts in All Race (ExAC)
86541
Allele Counts in All Race (ExAC)
22
Heterozygous Counts in All Race (ExAC)
14
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.542147652557747E-4
East Asian Hemizygous Counts (ExAC)
6
Hemizygous Counts in All Race (ExAC)
8
Genome browser