Variant #0000630842 (NC_000006.11:g.24353853T>C, DCDC2(NM_016356.3):c.294-2A>G)
Individual ID |
00275554 |
Chromosome |
6 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.24353853T>C |
DNA change (hg38) |
g.24353625T>C |
Published as |
- |
ISCN |
- |
DB-ID |
DCDC2_000005 See all 2 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
502281 |
dbSNP ID |
rs1554121105 |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Andreas Janecke |
Database submission license |
No license selected |
Created by |
Andreas Janecke |

Variant on transcripts
Screenings
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