Variant #0000640772 (NC_000008.10:g.72211461G>A, EYA1(NM_000503.4):c.647C>T)

Individual ID 00283880
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.72211461G>A
DNA change (hg38) g.71299226G>A
Published as -
ISCN -
DB-ID EYA1_000180
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Hoskins 2008
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 1.0E-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.647C>T r.(?) p.(Ser216Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000285030 DNA ? - - EYA1 1 Global Variome, with Curator vacancy