Genomic variant #0000021283

Individual ID 00003004
Chromosome 8
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.72127864G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID EYA1_000001 See all 3 reported entries
Variant remarks same as in unrelated patient, segregation analysis needed
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00054 View details
Owner Marcel Nelen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
EYA1 NM_172058.2 +?/? - c.1460C>T - r.(?) p.(Ser487Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002910 DNA SEQ - - EYA1 1 Marcel Nelen