Variant #0000535309 (NC_000008.10:g.72211337C>T, EYA1(NM_000503.4):c.771G>A)
Chromosome |
8 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.72211337C>T |
DNA change (hg38) |
g.71299102C>T |
Published as |
EYA1(NM_000503.5):c.771G>A (p.Q257=) |
ISCN |
- |
DB-ID |
EYA1_000052 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
VKGL-NL_Rotterdam |

Variant on transcripts
|
|