chr17:39724736:T>C Detail (hg38) (ERBB2)

Information

Genome

Assembly Position
hg19 chr17:37,880,989-37,880,989 View the variant detail on this assembly version.
hg38 chr17:39,724,736-39,724,736

HGVS

Type Transcript Protein
RefSeq NM_004448.3:c.2318T>C NP_004439.2:p.Val773Ala
NM_001289937.1:c.2318T>C NP_001276866.1:p.Val773Ala
NM_001005862.2:c.2228T>C NP_001005862.1:p.Val743Ala
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 164870 OMIM
HGNC 3430 HGNC
Ensembl ENSG00000141736 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM14244 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
head and neck squamous cell carcinoma Lapatinib D Predictive Supports Sensitivity/Response Somatic 3 22046346 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Cell proliferation analysis showed that the ERBB2-H878Y mutant had the highest sensitivity against l... 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
chr17:39,724,736-39,724,736
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
V773A
Transcript 1 (CIViC Variant)
ENST00000269571.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/872
Genome browser