chrX:154533596:C>T Detail (hg38) (G6PD)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:153,761,811-153,761,811 View the variant detail on this assembly version. |
hg38 | chrX:154,533,596-154,533,596 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000402.4:c.844G>A | NP_000393.4:p.Asp282Asn |
NM_001042351.2:c.844G>A | NP_001035810.1:p.Asp282Asn | |
Ensemble | ENST00000369620.6:c.982G>A | ENST00000369620.6:p.Asp328Asn |
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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.240 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | NA | CLINVAR | Detail |
Annotation
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:154,533,596-154,533,596
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 6626
- 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)
- 86917
- 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)
- 1.1505229126638057E-5
- East Asian Hemizygous Counts (ExAC)
- 0
- Hemizygous Counts in All Race (ExAC)
- 1
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