chr7:92070201:C>A Detail (hg38) (AKAP9)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:91,699,515-91,699,515 View the variant detail on this assembly version. |
hg38 | chr7:92,070,201-92,070,201 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005751.4:c.6502C>A | NP_005742.4:p.Gln2168Lys |
NM_147185.2:c.6502C>A | NP_671714.1:p.Gln2168Lys | |
Ensemble | ENST00000356239.8:c.6502C>A | ENST00000356239.8:p.Gln2168Lys |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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Centenarian |
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MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
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
- rs768800792 dbSNP
- Genome
- hg38
- Position
- chr7:92,070,201-92,070,201
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- 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))
- rs768800792
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- Homozygous Counts in All Race (ExAC)
- 0
- East Asian Chromosome Counts (ExAC)
- 8638
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1576753878212549E-4
- Chromosome Counts in All Race (ExAC)
- 121322
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Allele Frequency in All Race (ExAC)
- 8.242528148233626E-6
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