Variant #0000349814 (NC_000017.10:g.42085858G>A, NAGS(NM_153006.2):c.1494G>A)

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.42085858G>A
DNA change (hg38) g.44008490G>A
Published as -
ISCN -
DB-ID NAGS_000049 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_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-07-13 16:34:07 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PYY NM_004160.4 +/. - c.-4562C>T r.(?) p.(=)
TMEM101 NM_032376.2 +/. - c.*3438C>T r.(=) p.(=)
NAGS NM_153006.2 +/. - c.1494G>A r.(?) p.(Trp498Ter)