Variant #0000640804 (NC_000008.10:g.72267034G>A, EYA1(NM_000503.4):c.107C>T)

Individual ID 00283912
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.72267034G>A
DNA change (hg38) g.71354799G>A
Published as -
ISCN -
DB-ID EYA1_000211
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 (large NGS studies) 0.00016 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.107C>T r.(?) p.(Pro36Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000285062 DNA ? - - EYA1 1 Global Variome, with Curator vacancy