chrX:154532695:G>A Detail (hg38) (G6PD)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:153,760,910-153,760,910 View the variant detail on this assembly version. |
hg38 | chrX:154,532,695-154,532,695 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000402.4:c.1159C>T | NP_000393.4:p.Arg387Cys |
NM_001042351.2:c.1159C>T | NP_001035810.1:p.Arg387Cys | |
Ensemble | ENST00000369620.6:c.1297C>T | ENST00000369620.6:p.Arg433Cys |
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 |
---|---|---|---|---|---|
![]() |
2017-05-24 | no assertion criteria provided |
![]() |
Detail | |
![]() |
2022-09-09 | criteria provided, multiple submitters, no conflicts | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
![]() ![]() |
Detail |
![]() |
2022-08-12 | criteria provided, single submitter | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
![]() |
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.1249C>T (p.Arg417Cys) AND G6PD GUADALAJARA | ClinVar | Detail |
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) AND Anemia, nonspherocytic hemolytic, due to G6PD deficien... | ClinVar | Detail |
NM_001360016.2(G6PD):c.[1159C>T;376A>G] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 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
- rs137852334 dbSNP
- Genome
- hg38
- Position
- chrX:154,532,695-154,532,695
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser