chrX:154535277:T>C Detail (hg38) (G6PD)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:153,763,492-153,763,492 View the variant detail on this assembly version. |
hg38 | chrX:154,535,277-154,535,277 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000402.4:c.376A>G | NP_000393.4:p.Asn126Asp |
NM_001042351.2:c.376A>G | NP_001035810.1:p.Asn126Asp | |
Ensemble | ENST00000369620.6:c.376A>G | ENST00000369620.6:p.Asn126Asp |
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 | Conflicting classifications of pathogenicity |
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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2018-05-11 | no assertion criteria provided |
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Detail | |
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2000-03-31 | no assertion criteria provided | G6PD deficiency |
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Detail |
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2017-05-24 | no assertion criteria provided |
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Detail | |
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2023-11-28 | criteria provided, conflicting interpretations | not provided |
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Detail |
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2024-02-02 | criteria provided, conflicting interpretations | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
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Detail |
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2016-06-14 | criteria provided, single submitter | G6PD deficiency |
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Detail |
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2015-12-29 | no assertion criteria provided | Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to |
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Detail |
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2015-12-29 | no assertion criteria provided | Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to |
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Detail |
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2017-12-30 | no assertion criteria provided | Bone mineral density quantitative trait locus 18 |
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Detail |
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2021-04-08 | criteria provided, single submitter | not specified |
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Detail |
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criteria provided, single submitter | Anemia, nonspherocytic hemolytic, due to G6PD deficiency,G6PD deficiency |
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Detail | |
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criteria provided, single submitter | Anemia, nonspherocytic hemolytic, due to G6PD deficiency,G6PD deficiency |
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Detail | |
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2023-11-20 | criteria provided, single submitter | Inborn genetic diseases |
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Detail |
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2022-08-12 | criteria provided, multiple submitters, no conflicts | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
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Detail |
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2022-12-23 | criteria provided, multiple submitters, no conflicts | 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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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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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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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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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 |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.012 | anemia | Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54... | BeFree | 24934404 | Detail |
<0.001 | anemia | Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54... | BeFree | 24934404 | Detail |
<0.001 | anemia | Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54... | BeFree | 24934404 | Detail |
0.240 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | NA | CLINVAR | Detail | |
0.240 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | G6PD Mount Sinai: a new severe hemolytic variant characterized by dual mutations... | UNIPROT | 9452072 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND G6PD A+ | ClinVar | Detail |
G6PD A- AND G6PD deficiency | ClinVar | Detail |
NM_001042351.1(G6PD):c.[376A>G;542A>T] AND G6PD SANTAMARIA | ClinVar | Detail |
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND not provided | ClinVar | Detail |
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND Anemia, nonspherocytic hemolytic, due to G6PD deficienc... | ClinVar | Detail |
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND G6PD deficiency | ClinVar | Detail |
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND multiple conditions | ClinVar | Detail |
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND multiple conditions | ClinVar | Detail |
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND Bone mineral density quantitative trait locus 18 | ClinVar | Detail |
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND not specified | ClinVar | Detail |
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND multiple conditions | ClinVar | Detail |
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND multiple conditions | ClinVar | Detail |
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND Inborn genetic diseases | ClinVar | Detail |
NM_001360016.2(G6PD):c.[376A>G;968T>C] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar | Detail |
G6PD A- AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar | Detail |
NM_001042351.1(G6PD):c.[376A>G;542A>T] 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_001360016.2(G6PD):c.[1159C>T;376A>G] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar | Detail |
NM_001360016.2(G6PD):c.[1264C>G;202G>A376A>G] AND Anemia, nonspherocytic hemolytic, due to G6PD defi... | ClinVar | Detail |
NM_001360016.2(G6PD):c.[311G>A;376A>G] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar | Detail |
NM_001360016.2(G6PD):c.[202G>A;376A>G563C>T] AND Anemia, nonspherocytic hemolytic, due to G6PD defic... | ClinVar | Detail |
NM_001360016.2(G6PD):c.[376A>G;563C>T] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar | Detail |
NM_001360016.2(G6PD):c.[376A>G;463C>G] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar | Detail |
NM_001360016.2(G6PD):c.[376A>G;680G>T] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar | Detail |
Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge... | DisGeNET | Detail |
Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge... | DisGeNET | Detail |
Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge... | DisGeNET | Detail |
NA | DisGeNET | Detail |
G6PD Mount Sinai: a new severe hemolytic variant characterized by dual mutations at nucleotides 376G... | 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
- rs1050829 dbSNP
- Genome
- hg38
- Position
- chrX:154,535,277-154,535,277
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 6633
- 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)
- 87435
- Allele Counts in All Race (ExAC)
- 2840
- Heterozygous Counts in All Race (ExAC)
- 1519
- Homozygous Counts in All Race (ExAC)
- 354
- Allele Frequency in All Race (ExAC)
- 0.03248127180190999
- East Asian Hemizygous Counts (ExAC)
- 0
- Hemizygous Counts in All Race (ExAC)
- 613
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