Variant #0000640786 (NC_000008.10:g.72211928_72211929del, EYA1(NM_000503.4):c.588_589del)

Individual ID 00283894
Chromosome 8
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.72211928_72211929del
DNA change (hg38) g.71299693_71299694del
Published as -
ISCN -
DB-ID EYA1_000194
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Stockley 2009
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Global Variome, with Curator vacancy
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EYA1 NM_000503.4 +/+ - c.588_589del r.(?) p.(Thr197ArgfsTer3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000285044 DNA ? - - EYA1 1 Global Variome, with Curator vacancy