Genomic variant #0000535304

Chromosome 8
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.72127730T>C
DNA change (hg38) -
Published as EYA1(NM_172058.3):c.1489A>G (p.(Asn497Asp))
ISCN -
DB-ID EYA1_000047
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) 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.1489A>G VUS r.(?) p.(Asn497Asp)