chr17:7010333:G>A Detail (hg38) (ALOX12, ALOX12-AS1)

Information

Genome

Assembly Position
hg19 chr17:6,913,652-6,913,652 View the variant detail on this assembly version.
hg38 chr17:7,010,333-7,010,333

HGVS

Type Transcript Protein
RefSeq NM_000697.2:c.1902G>A NP_000688.2:p.Leu634=
Ensemble ENST00000251535.11:c.1902G>A ENST00000251535.11:p.Leu634=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.111
ToMMo:0.120
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.151

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 152391 OMIM
HGNC 429 HGNC
Ensembl ENSG00000108839 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv56918221 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-06-09 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Toxoplasmosis, Congenital Here we report that the human ALOX12 gene has susceptibility alleles for human c... BeFree 24686056 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000697.3(ALOX12):c.1902G>A (p.Leu634=) AND not provided ClinVar Detail
Here we report that the human ALOX12 gene has susceptibility alleles for human congenital toxoplasmo... 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
rs312462 dbSNP
Genome
hg38
Position
chr17:7,010,333-7,010,333
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1207
Mean of sample read depth (HGVD)
81.22
Standard deviation of sample read depth (HGVD)
42.40
Number of reference allele (HGVD)
2146
Number of alternative allele (HGVD)
268
Allele Frequency (HGVD)
0.11101905550952776
Gene Symbol (HGVD)
ALOX12
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))
rs312462
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1204
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2018
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
1306
East Asian Heterozygous Counts (ExAC)
1094
East Asian Homozygous Counts (ExAC)
106
East Asian Allele Frequency (ExAC)
0.15119240564945588
Chromosome Counts in All Race (ExAC)
121086
Allele Counts in All Race (ExAC)
13911
Heterozygous Counts in All Race (ExAC)
11915
Homozygous Counts in All Race (ExAC)
998
Allele Frequency in All Race (ExAC)
0.11488528814231208
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