chrX:154532990:C>T Detail (hg38) (G6PD)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:153,761,205-153,761,205 View the variant detail on this assembly version. |
hg38 | chrX:154,532,990-154,532,990 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000402.4:c.1003G>A | NP_000393.4:p.Ala335Thr |
NM_001042351.2:c.1003G>A | NP_001035810.1:p.Ala335Thr | |
Ensemble | ENST00000369620.6:c.1141G>A | ENST00000369620.6:p.Ala381Thr |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2017-05-24 | no assertion criteria provided |
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Detail | |
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2024-03-29 | criteria provided, multiple submitters, no conflicts | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
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Detail |
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2014-09-07 | criteria provided, single submitter | Inborn genetic diseases |
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Detail |
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2024-04-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2018-10-31 | criteria provided, single submitter | Malaria, susceptibility to,Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
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Detail |
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2018-10-31 | criteria provided, single submitter | Malaria, susceptibility to,Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
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Detail |
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2019-05-14 | criteria provided, single submitter | not specified |
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Detail |
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2023-10-25 | criteria provided, single submitter | Malaria, susceptibility to |
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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 |
0.240 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) AND G6PD CHATHAM | ClinVar | Detail |
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) AND Anemia, nonspherocytic hemolytic, due to G6PD deficien... | ClinVar | Detail |
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) AND Inborn genetic diseases | ClinVar | Detail |
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) AND not provided | ClinVar | Detail |
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) AND multiple conditions | ClinVar | Detail |
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) AND multiple conditions | ClinVar | Detail |
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) AND not specified | ClinVar | Detail |
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) AND Malaria, susceptibility to | 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 |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs5030869 dbSNP
- Genome
- hg38
- Position
- chrX:154,532,990-154,532,990
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 6624
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.5096618357487922E-4
- Chromosome Counts in All Race (ExAC)
- 87176
- Allele Counts in All Race (ExAC)
- 17
- Heterozygous Counts in All Race (ExAC)
- 6
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.950078003120125E-4
- East Asian Hemizygous Counts (ExAC)
- 0
- Hemizygous Counts in All Race (ExAC)
- 11
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