Variant #0000643919 (NC_000002.11:g.219674424G>A, NM_000784.3:c.380G>A (CYP27A1))

Individual ID 00286951
Chromosome 2
Allele Unknown
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.219674424G>A
DNA change (hg38) g.218809701G>A
Published as -
ISCN -
DB-ID CYP27A1_000013 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) 1.0E-5 View details
Owner Jorge Amigo Lechuga
Database submission license No license selected
Created by Jorge Amigo Lechuga
Date created 2010-05-06 18:54:10 +02:00 (CEST)
Date last edited 2020-06-11 15:33:22 +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.380G>A r.(?) p.(Arg127Gln) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000288116 ? ? - - CYP27A1 2 LOVD


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