Variant #0000171989 (NC_000012.11:g.108959155G>T, ISCU(NM_014301.3):c.212G>T)

Individual ID 00105916
Chromosome 12
Allele Unknown
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.108959155G>T
DNA change (hg38) g.108565379G>T
Published as NM_213595.2:c.287G>T
ISCN -
DB-ID ISCU_000003
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Daniele Ghezzi
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Daniele Ghezzi
Date created 2017-06-26 16:55:03 +02:00 (CEST)
Date last edited 2017-06-30 10:21:09 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ISCU NM_014301.3 +/. 4 c.212G>T r.(?) p.(Gly71Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106387 DNA SEQ-NG - WES - 1 Daniele Ghezzi