chr12:56097888:T>C Detail (hg38) (ERBB3)

Information

Genome

Assembly Position
hg19 chr12:56,491,672-56,491,672 View the variant detail on this assembly version.
hg38 chr12:56,097,888-56,097,888

HGVS

Type Transcript Protein
RefSeq NM_001982.3:c.2564T>C NP_001973.2:p.Val855Ala
Ensemble ENST00000267101.8:c.2564T>C ENST00000267101.8:p.Val855Ala
ENST00000415288.6:c.2387T>C ENST00000415288.6:p.Val796Ala
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 COSM6908548 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung non-small cell carcinoma Pertuzumab,Afatinib D Predictive Supports Sensitivity/Response Somatic 2 26689995 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Case report on a novel V855A mutation located in exon 21 of the HER3 tyrosine kinase domain and foun... 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
hg38
Position
chr12:56,097,888-56,097,888
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
V855A
Transcript 1 (CIViC Variant)
ENST000000267101.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/781
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