chr4:88118106:T>C Detail (hg38) (ABCG2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:89,039,258-89,039,258 View the variant detail on this assembly version. |
| hg38 | chr4:88,118,106-88,118,106 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004827.2:c.841+3A>G | |
| NM_001257386.1:c.841+3A>G | ||
| Ensemble | ENST00000237612.8:c.841+3A>G |
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 |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2022-09-12 | criteria provided, single submitter | ABCG2-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004827.3(ABCG2):c.841+3A>G AND ABCG2-related disorder | ClinVar | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr4:88,118,106-88,118,106
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8578
- 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)
- 120276
- Allele Counts in All Race (ExAC)
- 43
- Heterozygous Counts in All Race (ExAC)
- 41
- Homozygous Counts in All Race (ExAC)
- 1
- Allele Frequency in All Race (ExAC)
- 3.5751105790016294E-4
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