Variant #0000265160 (NC_000002.11:g.219674469T>C, NM_000784.3:c.425T>C (CYP27A1))

Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.219674469T>C
DNA change (hg38) g.218809746T>C
Published as CYP27A1(NM_000784.4):c.425T>C (p.L142P)
ISCN -
DB-ID CYP27A1_000111
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) 7.0E-5 View details
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)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
CYP27A1 NM_000784.3 +?/. - c.425T>C r.(?) p.(Leu142Pro) -


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.