chr17:12899902:C>T Detail (hg19) (ELAC2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:12,899,902-12,899,902 |
hg38 | chr17:12,996,585-12,996,585 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001165962.1:c.1501G>A | NP_001159434.1:p.Ala501Thr |
NM_018127.6:c.1621G>A | NP_060597.4:p.Ala541Thr | |
NM_173717.1:c.1621G>A | NP_776065.1:p.Ala541Thr |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.003 |
ToMMo:0.002 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.007 |
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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2002-12-01 | no assertion criteria provided | Prostate cancer, hereditary, 2 |
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Detail |
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2016-03-29 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2024-02-01 | criteria provided, multiple submitters, no conflicts | Combined oxidative phosphorylation defect type 17 |
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Detail |
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2016-02-15 | no assertion criteria provided | not provided |
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Detail |
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2021-10-26 | criteria provided, single submitter | Combined oxidative phosphorylation defect type 17,Prostate cancer, hereditary, 2 |
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Detail |
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2021-10-26 | criteria provided, single submitter | Combined oxidative phosphorylation defect type 17,Prostate cancer, hereditary, 2 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.240 | Prostate cancer, hereditary, 2 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) AND Prostate cancer, hereditary, 2 | ClinVar | Detail |
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) AND not specified | ClinVar | Detail |
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) AND Combined oxidative phosphorylation defect type 17 | ClinVar | Detail |
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) AND not provided | ClinVar | Detail |
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) AND multiple conditions | ClinVar | Detail |
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) AND multiple conditions | 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
- rs5030739 dbSNP
- Genome
- hg19
- Position
- chr17:12,899,902-12,899,902
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1183
- Mean of sample read depth (HGVD)
- 37.00
- Standard deviation of sample read depth (HGVD)
- 19.14
- Number of reference allele (HGVD)
- 2358
- Number of alternative allele (HGVD)
- 8
- Allele Frequency (HGVD)
- 0.0033812341504649195
- Gene Symbol (HGVD)
- ELAC2
- 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))
- rs5030739
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0023
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 39
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8582
- East Asian Allele Counts (ExAC)
- 57
- East Asian Heterozygous Counts (ExAC)
- 57
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.006641808436261944
- Chromosome Counts in All Race (ExAC)
- 120648
- Allele Counts in All Race (ExAC)
- 4151
- Heterozygous Counts in All Race (ExAC)
- 3963
- Homozygous Counts in All Race (ExAC)
- 94
- Allele Frequency in All Race (ExAC)
- 0.034405874941979976
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