Variant #0000643909 (NC_000002.11:g.219674399del, NM_000784.3:c.355del (CYP27A1))
Individual ID |
00286942 |
Chromosome |
2 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.219674399del |
DNA change (hg38) |
g.218809676del |
Published as |
Deletion of Cytosine 376 |
ISCN |
- |
DB-ID |
CYP27A1_000008 See all 4 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Jorge Amigo Lechuga |
Database submission license |
No license selected |
Created by |
Jorge Amigo Lechuga |
Date created |
2010-05-06 18:39:06 +02:00 (CEST) |
Date last edited |
2020-06-11 15:33:18 +02:00 (CEST) |

Variant on transcripts
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