chr12:121438844:T>C Detail (hg19) (HNF1A, C12orf43)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:121,438,844-121,438,844 |
hg38 | chr12:121,001,041-121,001,041 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001286192.1:c.*3112A>G | |
NM_001286198.1:c.*3112A>G | ||
NM_022895.2:c.*3112A>G |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000545.6:c.1769-24T>C | |
NM_001306179.1:c.1769-24T>C | ||
Ensemble | ENST00000541395.5:c.1862-24T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.550 |
ToMMo:0.545 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.498 |
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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2018-06-14 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.009 | Inflammation | NA | GAD | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_022895.3(C12orf43):c.*3112A>G 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
- rs735396 dbSNP
- Genome
- hg19
- Position
- chr12:121,438,844-121,438,844
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 834
- Mean of sample read depth (HGVD)
- 67.79
- Standard deviation of sample read depth (HGVD)
- 32.94
- Number of reference allele (HGVD)
- 751
- Number of alternative allele (HGVD)
- 917
- Allele Frequency (HGVD)
- 0.5497601918465228
- Gene Symbol (HGVD)
- HNF1A
- 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))
- rs735396
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5452
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9137
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8578
- East Asian Allele Counts (ExAC)
- 4274
- East Asian Heterozygous Counts (ExAC)
- 2162
- East Asian Homozygous Counts (ExAC)
- 1056
- East Asian Allele Frequency (ExAC)
- 0.4982513406388436
- Chromosome Counts in All Race (ExAC)
- 119714
- Allele Counts in All Race (ExAC)
- 46498
- Heterozygous Counts in All Race (ExAC)
- 27364
- Homozygous Counts in All Race (ExAC)
- 9567
- Allele Frequency in All Race (ExAC)
- 0.38840904154902517
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