Variant #0000020390 (NC_000011.9:g.71152429A>G, DHCR7(NM_001360.2):c.470T>C)
Individual ID |
00002275 |
Chromosome |
11 |
Allele |
Parent #2 |
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.71152429A>G |
DNA change (hg38) |
g.71441383A>G |
Published as |
- |
ISCN |
- |
DB-ID |
DHCR7_000023 See all 11 reported entries |
Variant remarks |
- |
Reference |
PubMed: Fitzky et al. 1998 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
4.0E-5 View details |
Owner |
Division of Human Genetics, Innsbruck |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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