Variant #0000640793 (NC_000008.10:g.72229915C>T, EYA1(NM_000503.4):c.428G>A)
Individual ID |
00283901 |
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.72229915C>T |
DNA change (hg38) |
g.71317680C>T |
Published as |
- |
ISCN |
- |
DB-ID |
EYA1_000200 |
Variant remarks |
- |
Reference |
MORL Deafness Variation Database, PubMed: Smith 1993, PubMed: Duzkale 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Global Variome, with Curator vacancy |

Variant on transcripts
Screenings
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