Variant #0000268782 (NC_000007.13:g.55214405G>A, EGFR(NM_005228.3):c.531G>A)

Chromosome 7
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.55214405G>A
DNA change (hg38) g.55146712G>A
Published as EGFR(NM_005228.3):c.531G>A (p.S177=)
ISCN -
DB-ID EGFR_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00517 View details
Owner VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EGFR NM_005228.3 -/. - c.531G>A r.(?) p.(Ser177=)