chrX:153763485:A>G Detail (hg19) (G6PD)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:153,763,485-153,763,485 |
hg38 | chrX:154,535,270-154,535,270 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000402.4:c.383T>C | NP_000393.4:p.Leu128Pro |
NM_001042351.2:c.383T>C | NP_001035810.1:p.Leu128Pro | |
Ensemble | ENST00000369620.6:c.383T>C | ENST00000369620.6:p.Leu128Pro |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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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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2013-10-29 | criteria provided, single submitter | not provided |
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Detail |
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2018-09-20 | criteria provided, single submitter | G6PD deficiency |
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Detail |
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2022-10-07 | 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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2023-09-01 | 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_001360016.2(G6PD):c.383T>C (p.Leu128Pro) AND not provided | ClinVar | Detail |
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) AND G6PD deficiency | ClinVar | Detail |
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) AND Anemia, nonspherocytic hemolytic, due to G6PD defici... | ClinVar | Detail |
NM_001360016.2(G6PD):c.[375G>T;379G>T383T>C384C>T] AND Anemia, nonspherocytic hemolytic, due to G6PD... | ClinVar | Detail |
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) 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
- rs78365220 dbSNP
- Genome
- hg19
- Position
- chrX:153,763,485-153,763,485
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser