chrX:153760891:C>T Detail (hg19) (G6PD)

Information

Genome

Assembly Position
hg19 chrX:153,760,891-153,760,891
hg38 chrX:154,532,676-154,532,676 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000402.4:c.1178G>A NP_000393.4:p.Arg393His
NM_001042351.2:c.1178G>A NP_001035810.1:p.Arg393His
Ensemble ENST00000369620.6:c.1316G>A ENST00000369620.6:p.Arg439His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
other 2013-10-24 no assertion criteria provided germline Detail
other 2017-05-24 no assertion criteria provided germline Detail
other 2017-05-24 no assertion criteria provided germline Detail
Pathogenic 2023-04-11 criteria provided, multiple submitters, no conflicts Anemia, nonspherocytic hemolytic, due to G6PD deficiency germline inherited unknown Detail
Pathogenic 2019-03-20 criteria provided, single submitter not specified germline Detail
Pathogenic 2023-02-20 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 Chronic non-spherocytic hemolytic anemia Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD varian... BeFree 1536798 Detail
0.240 Anemia, nonspherocytic hemolytic, due to G6PD deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) AND G6PD PORTICI ClinVar Detail
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) AND G6PD NASHVILLE ClinVar Detail
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) AND G6PD ANAHEIM ClinVar Detail
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) AND Anemia, nonspherocytic hemolytic, due to G6PD deficien... ClinVar Detail
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) AND not specified ClinVar Detail
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) AND not provided ClinVar Detail
Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD variant (393 Arg----His) w... 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
rs137852316 dbSNP
Genome
hg19
Position
chrX:153,760,891-153,760,891
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser