chr6:151618215:A>C Detail (hg38) (CCDC170)

Information

Genome

Assembly Position
hg19 chr6:151,939,350-151,939,350 View the variant detail on this assembly version.
hg38 chr6:151,618,215-151,618,215

HGVS

Type Transcript Protein
RefSeq NM_025059.3:c.*68A>C
Ensemble ENST00000239374.8:c.*68A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.236
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 tgv27490744 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
0.123 Malignant neoplasm of breast Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide ass... GWASCAT 21263130 Detail
<0.001 Mammographic Density The effect of 6q25.1-rs3734805 on percent MD varied between parous and nulliparo... BeFree 25002657 Detail
0.080 breast carcinoma We also identified two variants (rs3734805 and rs9383938) mapping to 6q25.1 estr... BeFree 21263130 Detail
0.240 Malignant neoplasm of breast We also identified two variants (rs3734805 and rs9383938) mapping to 6q25.1 estr... BeFree 21263130 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_025059.4(CCDC170):c.*68A>C AND Estrogen resistance syndrome ClinVar Detail
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. DisGeNET Detail
The effect of 6q25.1-rs3734805 on percent MD varied between parous and nulliparous women (Pinteracti... DisGeNET Detail
We also identified two variants (rs3734805 and rs9383938) mapping to 6q25.1 estrogen receptor 1 (ESR... DisGeNET Detail
We also identified two variants (rs3734805 and rs9383938) mapping to 6q25.1 estrogen receptor 1 (ESR... 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
rs3734805 dbSNP
Genome
hg38
Position
chr6:151,618,215-151,618,215
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))
rs3734805
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2363
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3961
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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