chrX:154532434:C>G Detail (hg38) (G6PD)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:153,760,649-153,760,649 View the variant detail on this assembly version. |
hg38 | chrX:154,532,434-154,532,434 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000402.4:c.1316G>C | NP_000393.4:p.Arg439Pro |
NM_001042351.2:c.1316G>C | NP_001035810.1:p.Arg439Pro | |
Ensemble | ENST00000369620.6:c.1454G>C | ENST00000369620.6:p.Arg485Pro |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
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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2017-05-24 | no assertion criteria provided |
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Detail | |
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2022-09-30 | criteria provided, conflicting interpretations | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
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Detail |
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2017-07-23 | criteria provided, multiple submitters, no conflicts | not provided |
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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.1406G>C (p.Arg469Pro) AND G6PD PAWNEE | ClinVar | Detail |
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) AND Anemia, nonspherocytic hemolytic, due to G6PD deficien... | ClinVar | Detail |
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) AND not provided | 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
- rs137852337 dbSNP
- Genome
- hg38
- Position
- chrX:154,532,434-154,532,434
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser