chrX:154535278:C>A Detail (hg38) (G6PD)

Information

Genome

Assembly Position
hg19 chrX:153,763,493-153,763,493 View the variant detail on this assembly version.
hg38 chrX:154,535,278-154,535,278

HGVS

Type Transcript Protein
RefSeq NM_000402.4:c.375G>T NP_000393.4:p.Met125Ile
NM_001042351.2:c.375G>T NP_001035810.1:p.Met125Ile
Ensemble ENST00000369620.6:c.375G>T ENST00000369620.6:p.Met125Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance no classification for the single variant
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
Likely pathogenic 2022-08-12 criteria provided, single submitter Anemia, nonspherocytic hemolytic, due to G6PD deficiency unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001360016.2(G6PD):c.[375G>T;379G>T383T>C384C>T] AND Anemia, nonspherocytic hemolytic, due to G6PD... ClinVar 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
rs2148331335 dbSNP
Genome
hg38
Position
chrX:154,535,278-154,535,278
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser