Variant #0000722087 (NC_000008.10:g.72184119G>T, EYA1(NM_000503.4):c.840C>A)

Chromosome 8
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.72184119G>T
DNA change (hg38) -
Published as EYA1(NM_000503.5):c.840C>A (p.I280=)
ISCN -
DB-ID EYA1_000011 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00236 View details
Owner VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EYA1 NM_000503.4 -?/. - c.840C>A r.(?) p.(Ile280=)