chrX:153763485:A>G Detail (hg19) (G6PD)

Information

Genome

Assembly Position
hg19 chrX:153,763,485-153,763,485
hg38 chrX:154,535,270-154,535,270 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000402.4:c.383T>C NP_000393.4:p.Leu128Pro
NM_001042351.2:c.383T>C NP_001035810.1:p.Leu128Pro
Ensemble ENST00000369620.6:c.383T>C ENST00000369620.6:p.Leu128Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
Pathogenic 2013-10-29 criteria provided, single submitter not provided germline Detail
Pathogenic 2018-09-20 criteria provided, single submitter G6PD deficiency germline Detail
Pathogenic 2022-10-07 criteria provided, multiple submitters, no conflicts Anemia, nonspherocytic hemolytic, due to G6PD deficiency germline inherited Detail
Likely pathogenic 2022-08-12 criteria provided, single submitter Anemia, nonspherocytic hemolytic, due to G6PD deficiency unknown Detail
Pathogenic 2023-09-01 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_001360016.2(G6PD):c.383T>C (p.Leu128Pro) AND not provided ClinVar Detail
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) AND G6PD deficiency ClinVar Detail
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) AND Anemia, nonspherocytic hemolytic, due to G6PD defici... ClinVar Detail
NM_001360016.2(G6PD):c.[375G>T;379G>T383T>C384C>T] AND Anemia, nonspherocytic hemolytic, due to G6PD... ClinVar Detail
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) 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
rs78365220 dbSNP
Genome
hg19
Position
chrX:153,763,485-153,763,485
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser