Variant #0000368216 (NC_000018.9:g.50432528A>G, NM_005215.3:c.527A>G (DCC))
Individual ID |
00163781 |
Chromosome |
18 |
Allele |
Paternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.50432528A>G |
DNA change (hg38) |
g.52906158A>G |
Published as |
- |
ISCN |
- |
DB-ID |
DCC_000008 See all 6 reported entries |
Variant remarks |
Mutations in other CHH genes PROKR2 p.Leu173Arg (maternal) |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00013 View details |
Owner |
Ashley Marsh |
Database submission license |
No license selected |
Created by |
Ashley Marsh |
Date created |
2018-04-12 04:03:59 +02:00 (CEST) |
Date last edited |
2019-02-26 16:30:15 +01:00 (CET) |

Variant on transcripts
Screenings
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