chr6:151918856:T>G Detail (hg19) (CCDC170)

Information

Genome

Assembly Position
hg19 chr6:151,918,856-151,918,856
hg38 chr6:151,597,721-151,597,721 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_025059.3:c.1710+1144T>G
Ensemble ENST00000239374.8:c.1710+1144T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.252
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM
HGNC 21177 HGNC
Ensembl ENSG00000120262 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27490240 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2014-03-01 no assertion criteria provided Estrogen resistance syndrome somatic Detail
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
Annotation

Annotations

DescrptionSourceLinks
NM_025059.4(CCDC170):c.1710+1144T>G AND Estrogen resistance syndrome ClinVar 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
We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12662670 dbSNP
Genome
hg19
Position
chr6:151,918,856-151,918,856
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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))
rs12662670
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2517
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4219
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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