Variant #0000050365 (NC_000006.11:g.86223575G>A, SNX14(NM_153816.3):c.2596C>T)

Individual ID 00027199
Chromosome 6
Allele Both (homozygous)
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.86223575G>A
DNA change (hg38) g.85513857G>A
Published as -
ISCN -
DB-ID SNX14_000001 See all 2 reported entries
Variant remarks -
Reference PubMed: Thomas 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SNX14 NM_153816.3 +/. 26 c.2596C>T r.(?) p.(Gln866*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000027207 DNA arraySNP;SEQ - - SNX14 1 Marianne Vos (LOVD-team)