Genomic variant #0000640645

Individual ID 00283753
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.72111638C>T
DNA change (hg38) g.71199403C>T
Published as -
ISCN -
DB-ID EYA1_000044 See all 2 reported entries
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Orten 2008
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 LOVD-team, but with Curator vacancy
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EYA1 NM_172058.2 +/+ 18 c.1716G>A r.(?) p.(Trp572*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284903 DNA ? - - EYA1 1 LOVD-team, but with Curator vacancy