chrX:153760891:C>T Detail (hg19) (G6PD)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:153,760,891-153,760,891 |
hg38 | chrX:154,532,676-154,532,676 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000402.4:c.1178G>A | NP_000393.4:p.Arg393His |
NM_001042351.2:c.1178G>A | NP_001035810.1:p.Arg393His | |
Ensemble | ENST00000369620.6:c.1316G>A | ENST00000369620.6:p.Arg439His |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2013-10-24 | no assertion criteria provided |
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Detail | |
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2017-05-24 | no assertion criteria provided |
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Detail | |
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2017-05-24 | no assertion criteria provided |
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Detail | |
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2023-04-11 | criteria provided, multiple submitters, no conflicts | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
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Detail |
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2019-03-20 | criteria provided, single submitter | not specified |
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Detail |
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2023-02-20 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.005 | Chronic non-spherocytic hemolytic anemia | Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD varian... | BeFree | 1536798 | Detail |
0.240 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) AND G6PD PORTICI | ClinVar | Detail |
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) AND G6PD NASHVILLE | ClinVar | Detail |
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) AND G6PD ANAHEIM | ClinVar | Detail |
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) AND Anemia, nonspherocytic hemolytic, due to G6PD deficien... | ClinVar | Detail |
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) AND not specified | ClinVar | Detail |
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) AND not provided | ClinVar | Detail |
Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD variant (393 Arg----His) w... | 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 |
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- Gene
- -
- dbSNP
- rs137852316 dbSNP
- Genome
- hg19
- Position
- chrX:153,760,891-153,760,891
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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