Variant #0001007036 (NC_000016.9:g.2185612_2185622del, NM_001009944.2:c.71_81del (PKD1))
Individual ID |
00453445 |
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.2185612_2185622del |
DNA change (hg38) |
g.2135611_2135621del |
Published as |
69_79del |
ISCN |
- |
DB-ID |
PKD1_002956 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
ClinVar-3374704 |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Marketa Wayhelova |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Marketa Wayhelova |
Date created |
2024-08-29 11:48:37 +02:00 (CEST) |
Date last edited |
2024-11-13 14:01:19 +01:00 (CET) |

Variant on transcripts
Screenings
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