Variant #0000673986 (NC_000008.10:g.72234477G>A, EYA1(NM_000503.4):c.229C>T)

Individual ID 00306226
Chromosome 8
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.72234477G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID EYA1_000215
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Sha Hong
Database submission license No license selected
Created by Sha Hong
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EYA1 NM_000503.4 +?/. - c.229C>T r.(?) p.(Arg77*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307359 DNA SEQ-NG - - EYA1 1 Sha Hong