Variant #0000000172 (NC_000011.9:g.71155265C>T, DHCR7(NM_001360.2):c.99-4G>A)

Individual ID 00000019, 00328383
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.71155265C>T
DNA change (hg38) g.71444219C>T
Published as -
ISCN -
DB-ID DHCR7_000185 See all 5 reported entries
Variant remarks -
Reference PubMed: Almomani 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0098 View details
Owner Gerard C.P. Schaafsma
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
DHCR7 NM_001360.2 ?/. 3i c.99-4G>A r.(=) p.(=) -
MFN2 NM_014874.3 +?/. - c.20G>A r.(?) p.(Arg7Gln) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000019 DNA SEQ-NG - - AFF2, ALG12, ALG6, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1 44 Global Variome, with Curator vacancy
0000329597 DNA SEQ-NG - WES CACNA1F, MFN2 2 LOVD