Variant #0000652520 (NC_000008.10:g.72246370G>A, EYA1(NM_000503.4):c.164C>T)
Individual ID |
00294663 |
Chromosome |
8 |
Allele |
Parent #1 |
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.72246370G>A |
DNA change (hg38) |
g.71334135G>A |
Published as |
- |
ISCN |
- |
DB-ID |
EYA1_000209 See all 3 reported entries |
Variant remarks |
conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) |
Reference |
PubMed: Narang 2020, Journal: Narang 2020 |
ClinVar ID |
- |
dbSNP ID |
rs201434219 |
Origin |
Germline |
Segregation |
- |
Frequency |
1/2795 individuals |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
0.00029 View details |
Owner |
Mohammed Faruq |

Variant on transcripts
Screenings
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