Variant #0000265163 (NC_000002.11:g.219674496C>G, NC_000002.11(NM_000784.3):c.446+6C>G (CYP27A1))

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.219674496C>G
DNA change (hg38) g.218809773C>G
Published as CYP27A1(NM_000784.4):c.446+6C>G
ISCN -
DB-ID CYP27A1_000115
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
CYP27A1 NM_000784.3 +/. - c.446+6C>G r.(=) p.(=) -


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