Variant #0000267366 (NC_000011.9:g.71150032G>A, DHCR7(NM_001360.2):c.724C>T)

Chromosome 11
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.71150032G>A
DNA change (hg38) g.71438986G>A
Published as DHCR7(NM_001360.2):c.724C>T (p.R242C)
ISCN -
DB-ID DHCR7_000036 See all 10 reported entries
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) 0.0001 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     

Haplotype     
DHCR7 NM_001360.2 +/. - c.724C>T r.(?) p.(Arg242Cys) -