Variant #0000640758 (NC_000008.10:g.72184109_72184116del, EYA1(NM_000503.4):c.845_852del)

Individual ID 00283866
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.72184109_72184116del
DNA change (hg38) g.71271874_71271881del
Published as -
ISCN -
DB-ID EYA1_000167
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Orten 2008
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.845_852del r.(?) p.(Ser282AsnfsTer4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000285016 DNA ? - - EYA1 1 Global Variome, with Curator vacancy