chr12:56478851:C>G Detail (hg19) (ERBB3)

Information

Genome

Assembly Position
hg19 chr12:56,478,851-56,478,851
hg38 chr12:56,085,067-56,085,067 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001982.3:c.307C>G NP_001973.2:p.Arg103Gly
NM_001005915.1:c.307C>G NP_001005915.1:p.Arg103Gly
Ensemble ENST00000683059.1:c.130C>G ENST00000683059.1:p.Arg44Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 190151 OMIM
HGNC 3431 HGNC
Ensembl ENSG00000065361 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6907311 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
transitional cell carcinoma Afatinib B Predictive Supports Sensitivity/Response Somatic 3 27044931 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In this phase II trial, patients with metastatic platinum-refractory urothelial carcinoma (UC) recei... CIViC Evidence 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
-
Genome
hg19
Position
chr12:56,478,851-56,478,851
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
R103G
Transcript 1 (CIViC Variant)
ENST00000267101.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/702
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