chr12:123726235:T>C Detail (hg38) (ATP6V0A2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:124,210,782-124,210,782 View the variant detail on this assembly version. |
| hg38 | chr12:123,726,235-123,726,235 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_012463.3:c.471T>C | NP_036595.2:p.Ser157= |
| Ensemble | ENST00000330342.8:c.471T>C | ENST00000330342.8:p.Ser157= |
| ENST00000613625.5:c.471T>C | ENST00000613625.5:p.Ser157= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.959 |
| ToMMo:0.965 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.945 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2016-01-11 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Benign
|
2021-07-14 | criteria provided, multiple submitters, no conflicts | Cutis laxa with osteodystrophy |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, single submitter | ALG9 congenital disorder of glycosylation |
germline
|
Detail |
|
Benign
|
2021-07-14 | criteria provided, single submitter | wrinkly skin syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) AND not specified | ClinVar | Detail |
| NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) AND Cutis laxa with osteodystrophy | ClinVar | Detail |
| NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) AND ALG9 congenital disorder of glycosylation | ClinVar | Detail |
| NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) AND Wrinkly skin syndrome | ClinVar | 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
- rs1399961 dbSNP
- Genome
- hg38
- Position
- chr12:123,726,235-123,726,235
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 44.66
- Standard deviation of sample read depth (HGVD)
- 20.15
- Number of reference allele (HGVD)
- 100
- Number of alternative allele (HGVD)
- 2319
- Allele Frequency (HGVD)
- 0.9586606035551881
- Gene Symbol (HGVD)
- ATP6V0A2
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1399961
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9647
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16168
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 8181
- East Asian Heterozygous Counts (ExAC)
- 443
- East Asian Homozygous Counts (ExAC)
- 3869
- East Asian Allele Frequency (ExAC)
- 0.9453431938987751
- Chromosome Counts in All Race (ExAC)
- 121388
- Allele Counts in All Race (ExAC)
- 82009
- Heterozygous Counts in All Race (ExAC)
- 25407
- Homozygous Counts in All Race (ExAC)
- 28301
- Allele Frequency in All Race (ExAC)
- 0.6755939631594556
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