chr16:72088461:A>C Detail (hg19) (HP)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:72,088,461-72,088,461 |
| hg38 | chr16:72,054,562-72,054,562 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005143.3:c.-91A>C | |
| Ensemble | ENST00000355906.10:c.-91A>C |
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 |
Affects
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Affects
|
2003-11-01 | no assertion criteria provided | Anhaptoglobinemia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Sickle Cell Trait | The objective was to investigate whether haptoglobin (Hp) haplotypes constructed... | BeFree | 20552021 | Detail |
| <0.001 | Sickle Cell Trait | The objective was to investigate whether haptoglobin (Hp) haplotypes constructed... | BeFree | 20552021 | Detail |
| <0.001 | trachoma | The objective was to investigate whether haptoglobin (Hp) haplotypes constructed... | BeFree | 20552021 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005143.5(HP):c.-91A>C AND Anhaptoglobinemia | ClinVar | Detail |
| The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional... | DisGeNET | Detail |
| The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional... | DisGeNET | Detail |
| The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional... | 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
- rs5471 dbSNP
- Genome
- hg19
- Position
- chr16:72,088,461-72,088,461
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 4498
- 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)
- 72844
- Allele Counts in All Race (ExAC)
- 778
- Heterozygous Counts in All Race (ExAC)
- 690
- Homozygous Counts in All Race (ExAC)
- 44
- Allele Frequency in All Race (ExAC)
- 0.010680358025369282
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