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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
CYP27A1 NM_000784.3 ?/? 2 c.355del r.(?) p.(Arg119Glyfs*24) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000288107 ? ? - - CYP27A1 1 LOVD


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