Genomic variant #0000535299

Chromosome 8
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.72111638C>T
DNA change (hg38) g.71199403C>T
Published as EYA1(NM_000503.5):c.1716G>A (p.W572*)
ISCN -
DB-ID EYA1_000044 See all 2 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 (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EYA1 NM_172058.2 +/. - c.1716G>A r.(?) p.(Trp572Ter)