Variant #0000000721 (NC_000007.14:g.55181370G>A, NM_005228.4:c.2361G>A (EGFR))

Individual ID 00000137
Chromosome 7
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.55181370G>A
Published as 55249063G > A
Reference Nurul-Syakima Ab Mutalib et al. (2014)dbSNP
DB-ID EGFR_000001
dbSNP ID rs1050171
Frequency 6/9
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-11-08 10:39:33 +08:00 (CST)
Date last edited 2021-08-22 16:07:11 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
EGFR NM_005228.4 -/. - c.2361G>A - r.(=) p.(=) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000152 DNA SEQ-NG;PCR EGFR 1 Nuur Athirah Binti Mohd Daud