Variant #0000302870 (NC_000017.10:g.42085972C>T, NAGS(NM_153006.2):c.*3C>T)

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.42085972C>T
DNA change (hg38) g.44008604C>T
Published as NAGS(NM_153006.2):c.*3C>T, NAGS(NM_153006.3):c.*3C>T
ISCN -
DB-ID NAGS_000008 See all 4 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) 0.56234 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PYY NM_004160.4 -/. - c.-4676G>A r.(?) p.(=)
TMEM101 NM_032376.2 -/. - c.*3324G>A r.(=) p.(=)
NAGS NM_153006.2 -/. - c.*3C>T r.(=) p.(=)