chrX:153760508:G>A Detail (hg19) (G6PD)

Information

Genome

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

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
Review star [No Data.]
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
[No Data.]
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
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
hg19
Position
chrX:153,760,508-153,760,508
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser