chrX:154534345:C>G Detail (hg38) (G6PD)

Information

Genome

Assembly Position
hg19 chrX:153,762,560-153,762,560 View the variant detail on this assembly version.
hg38 chrX:154,534,345-154,534,345

HGVS

Type Transcript Protein
RefSeq NM_000402.4:c.637G>C NP_000393.4:p.Val213Leu
NM_001042351.2:c.637G>C NP_001035810.1:p.Val213Leu
Ensemble ENST00000369620.6:c.637G>C ENST00000369620.6:p.Val213Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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
<0.001 Cholestasis in newborn We report a novel glucose-6-phosphate dehydrogenase (G6PD) mutation, which we pr... BeFree 20949590 Detail
0.240 Anemia, nonspherocytic hemolytic, due to G6PD deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
We report a novel glucose-6-phosphate dehydrogenase (G6PD) mutation, which we propose to name G6PD C... 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
-
Genome
hg38
Position
chrX:154,534,345-154,534,345
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
6628
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
87252
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
0
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.1461055333975152E-5
East Asian Hemizygous Counts (ExAC)
0
Hemizygous Counts in All Race (ExAC)
1
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