Genomic variant #0000535308

Chromosome 8
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.72211326G>A
DNA change (hg38) -
Published as EYA1(NM_000503.5):c.782C>T (p.P261L)
ISCN -
DB-ID EYA1_000051
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00031 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
EYA1 NM_172058.2 -?/. - c.782C>T likely benign r.(?) p.(Pro261Leu)