Variant #0000535307 (NC_000008.10:g.72184079G>A, EYA1(NM_000503.4):c.880C>T)
Chromosome |
8 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.72184079G>A |
DNA change (hg38) |
g.71271844G>A |
Published as |
EYA1(NM_001370335.1):c.880C>T (p.R294*) |
ISCN |
- |
DB-ID |
EYA1_000050 See all 3 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
VKGL-NL_Nijmegen |

Variant on transcripts
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