Variant #0000276461 (NC_000008.10:g.72246376G>A, EYA1(NM_000503.4):c.158C>T)
Chromosome |
8 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.72246376G>A |
DNA change (hg38) |
g.71334141G>A |
Published as |
EYA1(NM_000503.5):c.158C>T (p.A53V) |
ISCN |
- |
DB-ID |
EYA1_000016 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
0 View details |
Owner |
VKGL-NL_Rotterdam |

Variant on transcripts
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