Variant #0000561880 (NC_000017.10:g.42083150A>G, NAGS(NM_153006.2):c.572A>G)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.42083150A>G
DNA change (hg38) g.44005782A>G
Published as NAGS(NM_153006.2):c.572A>G (p.(Glu191Gly))
ISCN -
DB-ID NAGS_000053
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PYY NM_004160.4 -?/. - c.-1854T>C r.(?) p.(=)
NAGS NM_153006.2 -?/. - c.572A>G r.(?) p.(Glu191Gly)