chr2:212241725:C>T Detail (hg19) (ERBB4)

Information

Genome

Assembly Position
hg19 chr2:212,241,725-212,241,725
hg38 chr2:211,377,000-211,377,000 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005235.2:c.*6615G>A
NM_001042599.1:c.*6615G>A
Ensemble ENST00000342788.9:c.*6615G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.479
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 600543 OMIM
HGNC 3432 HGNC
Ensembl ENSG00000178568 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10370927 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 esophageal carcinoma To evaluate the association between microRNA-related SNPs and EC, a case-control... BeFree 24916311 Detail
0.003 Malignant neoplasm of esophagus To evaluate the association between microRNA-related SNPs and EC, a case-control... BeFree 24916311 Detail
<0.001 Esophageal Neoplasms To evaluate the association between microRNA-related SNPs and EC, a case-control... BeFree 24916311 Detail
<0.001 Squamous cell carcinoma of esophagus To evaluate the association between microRNA-related SNPs and EC, a case-control... BeFree 24916311 Detail
<0.001 Squamous cell carcinoma of esophagus Variant homozygote genotype of rs11614913 in microRNA-196a-2 and rs1595066 in Er... BeFree 24916311 Detail
0.005 Malignant neoplasm of esophagus To evaluate the association between microRNA-related SNPs and EC, a case-control... BeFree 24916311 Detail
<0.001 Malignant neoplasm of esophagus To evaluate the association between microRNA-related SNPs and EC, a case-control... BeFree 24916311 Detail
<0.001 esophageal carcinoma To evaluate the association between microRNA-related SNPs and EC, a case-control... BeFree 24916311 Detail
<0.001 Squamous cell carcinoma of esophagus To evaluate the association between microRNA-related SNPs and EC, a case-control... BeFree 24916311 Detail
0.003 Malignant neoplasm of esophagus To evaluate the association between microRNA-related SNPs and EC, a case-control... BeFree 24916311 Detail
0.003 Esophageal Neoplasms To evaluate the association between microRNA-related SNPs and EC, a case-control... BeFree 24916311 Detail
<0.001 Esophageal Neoplasms To evaluate the association between microRNA-related SNPs and EC, a case-control... BeFree 24916311 Detail
<0.001 Esophageal Neoplasms To evaluate the association between microRNA-related SNPs and EC, a case-control... BeFree 24916311 Detail
<0.001 esophageal carcinoma To evaluate the association between microRNA-related SNPs and EC, a case-control... BeFree 24916311 Detail
<0.001 esophageal carcinoma To evaluate the association between microRNA-related SNPs and EC, a case-control... BeFree 24916311 Detail
<0.001 Squamous cell carcinoma of esophagus The analysis of haplotypes in ErbB4 gene showed significant increased ESCC risk ... BeFree 24916311 Detail
Annotation

Annotations

DescrptionSourceLinks
To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381... DisGeNET Detail
To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381... DisGeNET Detail
To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381... DisGeNET Detail
To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381... DisGeNET Detail
Variant homozygote genotype of rs11614913 in microRNA-196a-2 and rs1595066 in ErbB4 were significant... DisGeNET Detail
To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381... DisGeNET Detail
To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381... DisGeNET Detail
To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381... DisGeNET Detail
To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381... DisGeNET Detail
To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381... DisGeNET Detail
To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381... DisGeNET Detail
To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381... DisGeNET Detail
To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381... DisGeNET Detail
To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381... DisGeNET Detail
To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381... DisGeNET Detail
The analysis of haplotypes in ErbB4 gene showed significant increased ESCC risk in G(rs1595066)C(rs1... 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
rs1595066 dbSNP
Genome
hg19
Position
chr2:212,241,725-212,241,725
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs1595066
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4793
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8033
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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