Variant #0000944324 (NC_000006.11:g.86224237G>C, NM_153816.3:c.2379C>G (SNX14))

Individual ID 00441138
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 (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.86224237G>C
DNA change (hg38) g.85514519G>C
Published as -
ISCN -
DB-ID SNX14_000035
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs1196127914
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Guillermo Lay-Son
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Guillermo Lay-Son
Date created 2023-11-07 23:24:25 +01:00 (CET)
Date last edited 2023-11-08 12:14:24 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SNX14 NM_153816.3 +?/. 24 c.2379C>G r.(?) p.(Tyr793*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000442624 DNA SEQ-NG-I - WES - 2 Guillermo Lay-Son


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