Variant #0000640800 (NC_000008.10:g.72234088G>T, EYA1(NM_000503.4):c.299C>A)

Individual ID 00283908
Chromosome 8
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.72234088G>T
DNA change (hg38) g.71321853G>T
Published as -
ISCN -
DB-ID EYA1_000207
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Duzkale 2013
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
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.299C>A r.(?) p.(Thr100Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000285058 DNA ? - - EYA1 1 Global Variome, with Curator vacancy