Variant #0000673986 (NC_000008.10:g.72234477G>A, EYA1(NM_000503.4):c.229C>T)
Individual ID |
00306226 |
Chromosome |
8 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.72234477G>A |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
EYA1_000215 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Sha Hong |

Variant on transcripts
Screenings
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