Variant #0000126818 (NC_000016.9:g.776086C>T, NC_000016.9(NM_001031737.2):c.61-1G>A (CCDC78))
Individual ID |
00078900 |
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.776086C>T |
DNA change (hg38) |
g.726086C>T |
Published as |
- |
ISCN |
- |
DB-ID |
CCDC78_000001 See all 5 reported entries |
Variant remarks |
linkage analysis, whole exome sequencing; lymphoblast RNA |
Reference |
PubMed: Majczenko 2012 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
3.0E-5 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2012-09-07 15:20:17 +02:00 (CEST) |
Date last edited |
2021-06-04 17:43:11 +02:00 (CEST) |

Variant on transcripts
Screenings
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