Variant #0000640789 (NC_000008.10:g.72229814G>A, EYA1(NM_000503.4):c.529C>T)

Individual ID 00283897
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.72229814G>A
DNA change (hg38) g.71317579G>A
Published as -
ISCN -
DB-ID EYA1_000196
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Lee 2007, PubMed: Krug 2011
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 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.529C>T r.(?) p.(Gln177*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000285047 DNA ? - - EYA1 1 Global Variome, with Curator vacancy