chr7:55259442:G>C Detail (hg19) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,259,442-55,259,442
hg38 chr7:55,191,749-55,191,749 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2500G>C NP_005219.2:p.Val834Leu
NM_001346897.1:c.2365G>C NP_001333826.1:p.Val789Leu
Ensemble ENST00000275493.7:c.2500G>C ENST00000275493.7:p.Val834Leu
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 131550 OMIM
HGNC 3236 HGNC
Ensembl ENSG00000146648 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2008-10-15 no assertion criteria provided not specified somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.385 Non-small cell lung carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005228.5(EGFR):c.2500G>C (p.Val834Leu) AND not specified ClinVar Detail
NA 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
rs397517127 dbSNP
Genome
hg19
Position
chr7:55,259,442-55,259,442
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser