Variant #0000670242 (NC_000016.9:g.30722114C>T, NM_006662.2:c.1174C>T (SRCAP))
Individual ID |
00305427 |
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.30722114C>T |
DNA change (hg38) |
g.30710793C>T |
Published as |
(Gln392*) |
ISCN |
- |
DB-ID |
SRCAP_000125 |
Variant remarks |
- |
Reference |
Rots ESHG2020 C02.4 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
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 |
2020-06-25 14:53:48 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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