Variant #0000389634 (NC_000001.10:g.215847813C>T, NM_206933.2:c.13440G>A (USH2A))
Individual ID |
00170182 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
Classification method |
ACMG |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.215847813C>T |
DNA change (hg38) |
g.215674471C>T |
Published as |
- |
ISCN |
- |
DB-ID |
USH2A_000381 See all 7 reported entries |
Variant remarks |
Heterozygous |
Reference |
PubMed: Baux 2014 |
ClinVar ID |
- |
dbSNP ID |
rs111033378 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
+HpyAV;-MnlI; |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00417 View details |
Owner |
Anne-Françoise Roux |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anne-Françoise Roux |
Date created |
2012-03-26 09:32:13 +02:00 (CEST) |
Date last edited |
2018-07-23 10:32:40 +02:00 (CEST) |

Variant on transcripts
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