Variant #0000726441 (NC_000017.10:g.42085003del, NAGS(NM_153006.2):c.1313del)

Chromosome 17
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.42085003del
DNA change (hg38) -
Published as NAGS(NM_153006.2):c.1313delG (p.G438Afs*10)
ISCN -
DB-ID NAGS_000051 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PYY NM_004160.4 +/. - c.-3702del r.(?) p.(=)
TMEM101 NM_032376.2 +/. - c.*4298del r.(?) p.(=)
NAGS NM_153006.2 +/. - c.1313del r.(?) p.(Gly438Alafs*10)