chr7:55181314:G>T Detail (hg38) (EGFR, EGFR-AS1)

Information

Genome

Assembly Position
hg19 chr7:55,249,007-55,249,007 View the variant detail on this assembly version.
hg38 chr7:55,181,314-55,181,314

HGVS

Type Transcript Protein
RefSeq NM_001346897.1:c.2170G>T NP_001333826.1:p.Val724Leu
NM_005228.3:c.2305G>T NP_005219.2:p.Val769Leu
Ensemble ENST00000455089.5:c.2170G>T ENST00000455089.5:p.Val724Leu
Summary

MGeND

Clinical significance
Variant entry
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 COSM6242 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2012-03-23 criteria provided, single submitter not specified somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.200 Adenocarcinoma of lung (disorder) Non-responsiveness to gefitinib in a patient with lung adenocarcinoma having rar... BeFree 17045698 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005228.5(EGFR):c.2305G>T (p.Val769Leu) AND not specified ClinVar Detail
Non-responsiveness to gefitinib in a patient with lung adenocarcinoma having rare EGFR mutations S76... 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
rs147149347 dbSNP
Genome
hg38
Position
chr7:55,181,314-55,181,314
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser