chr21:25911817:T>C Detail (hg38) (APP)

Information

Genome

Assembly Position
hg19 chr21:27,284,129-27,284,129 View the variant detail on this assembly version.
hg38 chr21:25,911,817-25,911,817

HGVS

Type Transcript Protein
RefSeq NM_000484.3:c.1833A>G NP_000475.1:p.Gly611=
NM_001204303.1:c.1608A>G NP_001191232.1:p.Gly536=
NM_201414.2:c.1608A>G NP_958817.1:p.Gly536=
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.009
ToMMo:0.007
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.003

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 104760 OMIM
HGNC 620 HGNC
Ensembl ENSG00000142192 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv64716770 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000151) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2022-09-07 criteria provided, single submitter Alzheimer disease germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000484.4(APP):c.1833A>G (p.Gly611=) AND Alzheimer disease 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
rs200922667 dbSNP
Genome
hg38
Position
chr21:25,911,817-25,911,817
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1196
Mean of sample read depth (HGVD)
44.53
Standard deviation of sample read depth (HGVD)
20.98
Number of reference allele (HGVD)
2370
Number of alternative allele (HGVD)
22
Allele Frequency (HGVD)
0.00919732441471572
Gene Symbol (HGVD)
APP
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))
rs200922667
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0066
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
110
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)
27
East Asian Heterozygous Counts (ExAC)
27
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.00311994453431939
Chromosome Counts in All Race (ExAC)
121380
Allele Counts in All Race (ExAC)
28
Heterozygous Counts in All Race (ExAC)
28
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.306805074971165E-4
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