Genomic variant #0000345638

Chromosome 8
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.72234068C>T
DNA change (hg38) -
Published as EYA1(NM_0172060):c.319G>A (p.Gly107Ser)
ISCN -
DB-ID EYA1_000042
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) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
EYA1 NM_172058.2 +?/. - c.319G>A likely pathogenic r.(?) p.(Ala107Thr)