Variant #0000561879 (NC_000017.10:g.42082476G>A, NAGS(NM_153006.2):c.426+19G>A)

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.42082476G>A
DNA change (hg38) g.44005108G>A
Published as NAGS(NM_153006.3):c.426+19G>A
ISCN -
DB-ID NAGS_000052
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) 0.00113 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PYY NM_004160.4 -/. - c.-1180C>T r.(?) p.(=)
NAGS NM_153006.2 -/. - c.426+19G>A r.(=) p.(=)