chr1:226881976:T>C Detail (hg38) (PSEN2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:227,069,677-227,069,677 View the variant detail on this assembly version. |
hg38 | chr1:226,881,976-226,881,976 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000447.2:c.69T>C | NP_000438.2:p.Ala23= |
NM_012486.2:c.69T>C | NP_036618.2:p.Ala23= | |
Ensemble | ENST00000366782.6:c.69T>C | ENST00000366782.6:p.Ala23= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.707 |
ToMMo:0.711 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.563 |
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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2017-07-24 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2021-10-25 | criteria provided, multiple submitters, no conflicts | dilated cardiomyopathy 1V |
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Detail |
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2024-02-01 | criteria provided, multiple submitters, no conflicts | Alzheimer disease 4 |
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Detail |
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2023-11-29 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) AND not specified | ClinVar | Detail |
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) AND Dilated cardiomyopathy 1V | ClinVar | Detail |
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) AND Alzheimer disease 4 | ClinVar | Detail |
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) AND not provided | 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
- rs11405 dbSNP
- Genome
- hg38
- Position
- chr1:226,881,976-226,881,976
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1190
- Mean of sample read depth (HGVD)
- 46.09
- Standard deviation of sample read depth (HGVD)
- 22.35
- Number of reference allele (HGVD)
- 696
- Number of alternative allele (HGVD)
- 1681
- Allele Frequency (HGVD)
- 0.7071939419436264
- Gene Symbol (HGVD)
- PSEN2
- 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))
- rs11405
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7109
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11915
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8632
- East Asian Allele Counts (ExAC)
- 4856
- East Asian Heterozygous Counts (ExAC)
- 2126
- East Asian Homozygous Counts (ExAC)
- 1365
- East Asian Allele Frequency (ExAC)
- 0.5625579240037072
- Chromosome Counts in All Race (ExAC)
- 121288
- Allele Counts in All Race (ExAC)
- 92221
- Heterozygous Counts in All Race (ExAC)
- 21641
- Homozygous Counts in All Race (ExAC)
- 35290
- Allele Frequency in All Race (ExAC)
- 0.7603472726073478
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