chr19:17282085:G>A Detail (hg38) (ANKLE1)

Information

Genome

Assembly Position
hg19 chr19:17,392,894-17,392,894 View the variant detail on this assembly version.
hg38 chr19:17,282,085-17,282,085

HGVS

Type Transcript Protein
RefSeq NM_001278444.1:c.253G>A NP_001265373.1:p.Ala85Thr
NM_152363.5:c.253G>A NP_689576.5:p.Ala85Thr
NM_001278443.1:c.91G>A NP_001265372.1:p.Ala31Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.329
ToMMo:0.322
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.339

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 619348 OMIM
HGNC 26812 HGNC
Ensembl ENSG00000160117 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv61444293 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.024 Triple Negative Breast Neoplasms We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), r... BeFree 21844186 Detail
<0.001 Triple Negative Breast Neoplasms We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), r... BeFree 21844186 Detail
<0.001 Triple Negative Breast Neoplasms We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), r... BeFree 21844186 Detail
0.122 Malignant neoplasm of breast A meta-analysis of genome-wide association studies of breast cancer identifies t... GWASCAT 22976474 Detail
Annotation

Annotations

DescrptionSourceLinks
We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs... DisGeNET Detail
We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs... DisGeNET Detail
We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs... DisGeNET Detail
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibil... 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
-
Genome
hg38
Position
chr19:17,282,085-17,282,085
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1120
Mean of sample read depth (HGVD)
30.14
Standard deviation of sample read depth (HGVD)
14.31
Number of reference allele (HGVD)
1504
Number of alternative allele (HGVD)
736
Allele Frequency (HGVD)
0.32857142857142857
Gene Symbol (HGVD)
ANKLE1
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))
rs8100241
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3224
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5399
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16748
East Asian Chromosome Counts (ExAC)
218
East Asian Allele Counts (ExAC)
74
East Asian Heterozygous Counts (ExAC)
54
East Asian Homozygous Counts (ExAC)
10
East Asian Allele Frequency (ExAC)
0.3394495412844037
Chromosome Counts in All Race (ExAC)
13440
Allele Counts in All Race (ExAC)
6597
Heterozygous Counts in All Race (ExAC)
3405
Homozygous Counts in All Race (ExAC)
1596
Allele Frequency in All Race (ExAC)
0.4908482142857143
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