chr15:91474236:T>C Detail (hg19) (UNC45A, HDDC3)

Information

Genome

Assembly Position
hg19 chr15:91,474,236-91,474,236
hg38 chr15:90,931,006-90,931,006 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001286451.1:c.*269A>G
NM_198527.3:c.*537A>G
NR_104447.1:c.*537A>G
Type Transcript Protein
RefSeq NM_001039675.1:c.-760+751T>C
Ensemble ENST00000394275.7:c.-760+751T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.544
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM
HGNC 30522 HGNC
Ensembl ENSG00000184508 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53976707 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 611219 OMIM
HGNC 30594 HGNC
Ensembl ENSG00000140553 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53976707 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
<0.001 breast carcinoma Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
<0.001 breast carcinoma Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
<0.001 Malignant neoplasm of breast Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
0.009 breast carcinoma Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
<0.001 breast carcinoma Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
<0.001 Malignant neoplasm of breast Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
<0.001 breast carcinoma Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
0.049 Malignant neoplasm of breast Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
0.005 Malignant neoplasm of breast Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
<0.001 Malignant neoplasm of breast Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
Annotation

Annotations

DescrptionSourceLinks
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... 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
rs1052532 dbSNP
Genome
hg19
Position
chr15:91,474,236-91,474,236
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs1052532
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5445
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9126
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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