chr12:81329536:A>C Detail (hg19) (LIN7A)

Information

Genome

Assembly Position
hg19 chr12:81,329,536-81,329,536
hg38 chr12:80,935,757-80,935,757 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001324423.1:c.82+1884T>G
NM_004664.3:c.82+1884T>G
NR_136888.1:c.82+1884T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.750
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.748

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 603380 OMIM
HGNC 17787 HGNC
Ensembl ENSG00000111052 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv46572646 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
0.004 Malignant neoplasm of breast To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
0.001 Malignant neoplasm of breast To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
<0.001 breast carcinoma To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
<0.001 Malignant neoplasm of breast To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
0.002 breast carcinoma To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
0.001 breast carcinoma To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
Annotation

Annotations

DescrptionSourceLinks
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... DisGeNET Detail
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... DisGeNET Detail
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... DisGeNET Detail
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... DisGeNET Detail
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... DisGeNET Detail
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... 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
rs2682818 dbSNP
Genome
hg19
Position
chr12:81,329,536-81,329,536
Variant Type
snv
Reference Allele
A
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))
rs2682818
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7504
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12576
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8636
East Asian Allele Counts (ExAC)
6457
East Asian Heterozygous Counts (ExAC)
1589
East Asian Homozygous Counts (ExAC)
2434
East Asian Allele Frequency (ExAC)
0.7476841130152848
Chromosome Counts in All Race (ExAC)
120528
Allele Counts in All Race (ExAC)
99538
Heterozygous Counts in All Race (ExAC)
16600
Homozygous Counts in All Race (ExAC)
41469
Allele Frequency in All Race (ExAC)
0.8258495951148281
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