Genomic variant #0000271273

Chromosome 8
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.72267083G>C
DNA change (hg38) -
Published as EYA1(NM_000503.5):c.58C>G (p.P20A)
ISCN -
DB-ID EYA1_000018
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) 0.06189 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.58C>G benign r.(?) p.(Pro20Ala)