Variant #0000091191 (NC_000017.10:g.42083895A>T, NAGS(NM_153006.2):c.916-2A>T)

Individual ID 00060226
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.42083895A>T
DNA change (hg38) g.44006527A>T
Published as -
ISCN -
DB-ID NAGS_000011
Variant remarks -
Reference PubMed: Häberle 2003, PubMed: Häberle 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johannes Häberle
Database submission license No license selected
Created by Johannes Häberle
Date created 2016-03-11 16:14:32 +01:00 (CET)
Date last edited 2020-07-13 16:32:43 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NAGS NM_153006.2 +/. - c.916-2A>T r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000060213 DNA SEQ - - NAGS 2 Johannes Häberle