Variant #0000683548 (NC_000011.9:g.71149978G>A, DHCR7(NM_001360.2):c.778C>T)

Individual ID 00307941
Chromosome 11
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.71149978G>A
DNA change (hg38) g.71438932G>A
Published as -
ISCN -
DB-ID DHCR7_000279
Variant remarks ACMG PM1,PM2,PM5
Reference PubMed: Anazi 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
DHCR7 NM_001360.2 +?/. - c.778C>T r.(?) p.(Arg260Trp) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309085 DNA SEQ;SEQ-NG - gene panel DHCR7 1 Johan den Dunnen