Variant #0000248488 (NC_000001.10:g.55319902A>G, DHCR24(NM_014762.3):c.1026T>C)

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.55319902A>G
DNA change (hg38) g.54854229A>G
Published as DHCR24(NM_014762.4):c.1026T>C (p.I342=)
ISCN -
DB-ID DHCR24_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.6638 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DHCR24 NM_014762.3 -/. - c.1026T>C r.(?) p.(Ile342=)