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 (large NGS studies) 0 View details
Owner 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