Variant #0000130015 (NC_000006.11:g.86217709G>A, SNX14(NM_153816.3):c.2722C>T)

Individual ID 00080817
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.86217709G>A
DNA change (hg38) g.85507991G>A
Published as -
ISCN -
DB-ID SNX14_000004 See all 2 reported entries
Variant remarks -
Reference PubMed: Trujillano 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Daniel Trujillano
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     
SNX14 NM_153816.3 +?/. - c.2722C>T r.(?) p.(Gln908*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080929 DNA SEQ;SEQ-NG - - SNX14 1 Daniel Trujillano