chrX:154532293:G>A Detail (hg38) (G6PD)

Information

Genome

Assembly Position
hg19 chrX:153,760,508-153,760,508 View the variant detail on this assembly version.
hg38 chrX:154,532,293-154,532,293

HGVS

Type Transcript Protein
RefSeq NM_000402.4:c.1365-13C>T
NM_001042351.2:c.1365-13C>T
Ensemble ENST00000369620.6:c.1503-13C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Benign
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 tgv67039595 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2022-02-18 criteria provided, single submitter not provided germline Detail
Benign 2022-08-12 criteria provided, single submitter Anemia, nonspherocytic hemolytic, due to G6PD deficiency unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.243 Deficiency of glucose-6-phosphate dehydrogenase In the present investigation, DNA samples from 17 patients with G6PD deficiency ... BeFree 9891846 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001360016.2(G6PD):c.1365-13C>T AND not provided ClinVar Detail
NM_001360016.2(G6PD):c.1365-13C>T AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar Detail
In the present investigation, DNA samples from 17 patients with G6PD deficiency from Tianjin area in... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2071429 dbSNP
Genome
hg38
Position
chrX:154,532,293-154,532,293
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser