Variant #0000079295 (NC_000016.9:g.29606538_30215625del, NM_145239.2:c.-217173_*389665del (PRRT2))
Individual ID |
00050370 |
Chromosome |
16 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.29606538_30215625del |
DNA change (hg38) |
g.29595217_30204304del |
Published as |
- |
ISCN |
- |
DB-ID |
FAM57B_000002 |
Variant remarks |
decreased gene dosage |
Reference |
PubMed: DDDS 2015, Journal: DDDS 2015 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2015-09-27 16:16:40 +02:00 (CEST) |
Date last edited |
2020-07-09 15:08:42 +02:00 (CEST) |

Variant on transcripts
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