Variant #0000640740 (NC_000008.10:g.72182054_72182055dup, EYA1(NM_000503.4):c.972_973dup)

Individual ID 00283848
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.72182054_72182055dup
DNA change (hg38) g.71269819_71269820dup
Published as -
ISCN -
DB-ID EYA1_000153
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Vincent 1997
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.972_973dup r.(?) p.(Phe325CysfsTer42)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284998 DNA ? - - EYA1 1 Global Variome, with Curator vacancy