chrX:154533596:C>G 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>C | NP_000393.4:p.Asp282His |
NM_001042351.2:c.844G>C | NP_001035810.1:p.Asp282His | |
Ensemble | ENST00000369620.6:c.982G>C | ENST00000369620.6:p.Asp328His |
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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2017-05-24 | no assertion criteria provided |
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2024-01-19 | criteria provided, multiple submitters, no conflicts | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
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Detail |
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2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2018-10-31 | criteria provided, single submitter | Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to |
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Detail |
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2018-10-31 | criteria provided, single submitter | Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to |
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Detail |
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2023-11-16 | criteria provided, conflicting interpretations | G6PD deficiency |
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Detail |
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2023-10-30 | criteria provided, single submitter | Malaria, susceptibility to |
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Detail |
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2023-12-08 | criteria provided, single submitter | G6PD-related disorder |
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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 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000402.4(G6PD):c.934G>C (p.Asp312His) AND G6PD SEATTLE-LIKE | ClinVar | Detail |
NM_000402.4(G6PD):c.934G>C (p.Asp312His) AND G6PD MODENA | ClinVar | Detail |
NM_000402.4(G6PD):c.934G>C (p.Asp312His) AND Anemia, nonspherocytic hemolytic, due to G6PD deficienc... | ClinVar | Detail |
NM_000402.4(G6PD):c.934G>C (p.Asp312His) AND not provided | ClinVar | Detail |
NM_000402.4(G6PD):c.934G>C (p.Asp312His) AND multiple conditions | ClinVar | Detail |
NM_000402.4(G6PD):c.934G>C (p.Asp312His) AND multiple conditions | ClinVar | Detail |
NM_000402.4(G6PD):c.934G>C (p.Asp312His) AND G6PD deficiency | ClinVar | Detail |
NM_000402.4(G6PD):c.934G>C (p.Asp312His) AND Malaria, susceptibility to | ClinVar | Detail |
NM_000402.4(G6PD):c.934G>C (p.Asp312His) AND G6PD-related disorder | ClinVar | 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 |
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- Gene
- -
- dbSNP
- rs137852318 dbSNP
- Genome
- hg38
- Position
- chrX:154,533,596-154,533,596
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- 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)
- 73
- Heterozygous Counts in All Race (ExAC)
- 40
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.398817262445782E-4
- East Asian Hemizygous Counts (ExAC)
- 0
- Hemizygous Counts in All Race (ExAC)
- 33
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