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 Benign
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
Links
Type Database ID Link
Gene MIM 604001 OMIM
HGNC 379 HGNC
Ensembl ENSG00000127914 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30103021 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline 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
Genome browser