Variant #0000683367 (NC_000011.9:g.71153365T>C, DHCR7(NM_001360.2):c.356A>G)

Individual ID 00307793
Chromosome 11
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.71153365T>C
DNA change (hg38) g.71442319T>C
Published as -
ISCN -
DB-ID DHCR7_000277 See all 2 reported entries
Variant remarks -
Reference PubMed: Grozeva 2015, Journal: Grozeva 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-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.356A>G r.(?) p.(His119Arg) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308933 DNA SEQ;SEQ-NG - 565 gene panel DHCR7 2 Johan den Dunnen