Variant #0000507857 (NC_000001.10:g.55352556G>A, DHCR24(NM_014762.3):c.231+6C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.55352556G>A
DNA change (hg38) g.54886883G>A
Published as DHCR24(NM_014762.3):c.231+6C>T (p.(=))
ISCN -
DB-ID DHCR24_000008
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) 3.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DHCR24 NM_014762.3 -?/. - c.231+6C>T r.(=) p.(=)