Variant #0000003369 (NC_000001.10:g.1898938G>A, NC_000001.10(NM_001080484.1):c.1246-973C>T (KIAA1751))
Individual ID |
00000208 |
Chromosome |
1 |
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.1898938G>A |
DNA change (hg38) |
g.1967499G>A |
Published as |
- |
ISCN |
- |
DB-ID |
KIAA1751_000001 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Yu Sun |
Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
Created by |
Ivo F.A.C. Fokkema |
Date created |
2012-09-13 12:05:04 +02:00 (CEST) |
Date last edited |
2025-05-22 23:31:17 +02:00 (CEST) |

Variant on transcripts
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