Variant #0000020140 (NC_000011.9:g.71148915G>C, NM_001360.2:c.906C>G (DHCR7))
Individual ID |
00002009 |
Chromosome |
11 |
Allele |
Maternal (inferred) |
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.71148915G>C |
DNA change (hg38) |
g.71437869G>C |
Published as |
- |
ISCN |
- |
DB-ID |
DHCR7_000053 See all 14 reported entries |
Variant remarks |
- |
Reference |
PubMed: Yu et al. 2000 |
ClinVar ID |
- |
dbSNP ID |
rs80338858 |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-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 |
Date created |
2010-03-29 17:46:43 +02:00 (CEST) |
Date last edited |
2012-04-13 14:37:37 +02:00 (CEST) |

Variant on transcripts
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