chrX:153761337:C>T Detail (hg19) (G6PD)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:153,761,337-153,761,337 |
hg38 | chrX:154,533,122-154,533,122 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000402.4:c.871G>A | NP_000393.4:p.Val291Met |
NM_001042351.2:c.871G>A | NP_001035810.1:p.Val291Met | |
Ensemble | ENST00000369620.6:c.1009G>A | ENST00000369620.6:p.Val337Met |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.003 |
Prediction
ClinVar
Clinical Significance |
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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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2017-05-24 | no assertion criteria provided |
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2024-01-31 | criteria provided, multiple submitters, no conflicts | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
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2024-01-25 | criteria provided, multiple submitters, no conflicts | G6PD deficiency |
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2023-06-01 | criteria provided, multiple submitters, no conflicts | not provided |
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2021-10-20 | criteria provided, single submitter | Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to |
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Detail |
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2021-10-20 | criteria provided, single submitter | Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to |
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criteria provided, single submitter | G6PD deficient hemolytic anemia |
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2014-09-07 | criteria provided, single submitter | Inborn genetic diseases |
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2022-08-12 | criteria provided, single submitter | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
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Detail |
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2022-08-12 | criteria provided, single submitter | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
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Detail |
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2023-10-29 | 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 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND G6PD VIANGCHAN | ClinVar | Detail |
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND G6PD JAMMU | ClinVar | Detail |
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND Anemia, nonspherocytic hemolytic, due to G6PD deficienc... | ClinVar | Detail |
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND G6PD deficiency | ClinVar | Detail |
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND not provided | ClinVar | Detail |
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND multiple conditions | ClinVar | Detail |
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND multiple conditions | ClinVar | Detail |
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND G6PD deficient hemolytic anemia | ClinVar | Detail |
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND Inborn genetic diseases | ClinVar | Detail |
NM_001360016.2(G6PD):c.[202G>A;871G>A] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar | Detail |
NM_001360016.2(G6PD):c.[376A>G;871G>A] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar | Detail |
NM_000402.4(G6PD):c.961G>A (p.Val321Met) AND Malaria, susceptibility to | ClinVar | 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
- -
- dbSNP
- rs137852327 dbSNP
- Genome
- hg19
- Position
- chrX:153,761,337-153,761,337
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs137852327
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12841
- East Asian Chromosome Counts (ExAC)
- 6595
- East Asian Allele Counts (ExAC)
- 17
- East Asian Heterozygous Counts (ExAC)
- 11
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.002577710386656558
- Chromosome Counts in All Race (ExAC)
- 86541
- Allele Counts in All Race (ExAC)
- 22
- Heterozygous Counts in All Race (ExAC)
- 14
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.542147652557747E-4
- East Asian Hemizygous Counts (ExAC)
- 6
- Hemizygous Counts in All Race (ExAC)
- 8
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