chrX:154535963:G>A Detail (hg38) (G6PD)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:153,764,178-153,764,178 View the variant detail on this assembly version. |
hg38 | chrX:154,535,963-154,535,963 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000402.4:c.241C>T | NP_000393.4:p.Arg81Cys |
NM_001042351.2:c.241C>T | NP_001035810.1:p.Arg81Cys | |
Ensemble | ENST00000369620.6:c.241C>T | ENST00000369620.6:p.Arg81Cys |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:<0.001 |
ToMMo:0.003 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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congenital dyserythropoietic anemia |
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MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-11-02 | criteria provided, multiple submitters, no conflicts | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.240 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutat... | UNIPROT | 11857737 | Detail |
0.240 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spre... | UNIPROT | 8364584 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001360016.2(G6PD):c.241C>T (p.Arg81Cys) AND Anemia, nonspherocytic hemolytic, due to G6PD deficie... | ClinVar | Detail |
G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations. | DisGeNET | Detail |
Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the co... | 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:154,535,963-154,535,963
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1152
- Mean of sample read depth (HGVD)
- 38.56
- Standard deviation of sample read depth (HGVD)
- 20.05
- Number of reference allele (HGVD)
- 2302
- Number of alternative allele (HGVD)
- 2
- Allele Frequency (HGVD)
- 8.680555555555555E-4
- Gene Symbol (HGVD)
- G6PD
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs138687036
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.003
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 38
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12840
- East Asian Chromosome Counts (ExAC)
- 6496
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.539408866995074E-4
- Chromosome Counts in All Race (ExAC)
- 83758
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.581747415172282E-5
- East Asian Hemizygous Counts (ExAC)
- 0
- Hemizygous Counts in All Race (ExAC)
- 0
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