chrX:154534489:T>C Detail (hg38) (G6PD)

Information

Genome

Assembly Position
hg19 chrX:153,762,704-153,762,704 View the variant detail on this assembly version.
hg38 chrX:154,534,489-154,534,489

HGVS

Type Transcript Protein
RefSeq NM_000402.4:c.493A>G NP_000393.4:p.Asn165Asp
NM_001042351.2:c.493A>G NP_001035810.1:p.Asn165Asp
Ensemble ENST00000369620.6:c.493A>G ENST00000369620.6:p.Asn165Asp
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
other 2013-04-18 no assertion criteria provided germline Detail
Likely pathogenic 2016-12-01 criteria provided, single submitter not specified germline Detail
Pathogenic 2014-05-14 criteria provided, single submitter not provided germline Detail
Pathogenic 2024-01-04 criteria provided, multiple submitters, no conflicts Anemia, nonspherocytic hemolytic, due to G6PD deficiency germline maternal Detail
Likely pathogenic 2022-02-25 criteria provided, single submitter Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to unknown Detail
Likely pathogenic 2022-02-25 criteria provided, single submitter Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to unknown Detail
Pathogenic 2023-10-23 criteria provided, single submitter Malaria, susceptibility to unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 FAVISM, SUSCEPTIBILITY TO NA CLINVAR Detail
0.240 Anemia, nonspherocytic hemolytic, due to G6PD deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) AND G6PD TAIWAN-HAKKA 2 ClinVar Detail
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) AND not specified ClinVar Detail
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) AND not provided ClinVar Detail
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) AND Anemia, nonspherocytic hemolytic, due to G6PD deficienc... ClinVar Detail
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) AND multiple conditions ClinVar Detail
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) AND multiple conditions ClinVar Detail
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) AND Malaria, susceptibility to ClinVar 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
rs137852331 dbSNP
Genome
hg38
Position
chrX:154,534,489-154,534,489
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
6619
East Asian Allele Counts (ExAC)
7
East Asian Heterozygous Counts (ExAC)
5
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0010575615651911164
Chromosome Counts in All Race (ExAC)
86877
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.057368463459834E-5
East Asian Hemizygous Counts (ExAC)
2
Hemizygous Counts in All Race (ExAC)
2
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