Variant #0000411178 (NC_000019.9:g.1401397A>G, GAMT(NM_000156.5):c.79T>C)

Individual ID 00184752
Chromosome 19
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.1401397A>G
DNA change (hg38) g.1401398A>G
Published as -
ISCN -
DB-ID GAMT_012044 See all 5 reported entries
Variant remarks variant proven to be NOT associated with GAMT deficiency (overexpression does not restore GAMT enzyme activity, homozygous individual have normal activity, high prevalence in control cohorts)
Reference Mahmutoglu et al, in preparation
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00277 View details
Owner Gajja Salomons
Database submission license No license selected
Created by Gajja Salomons
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GAMT NM_000156.5 -/- 1 c.79T>C r.(?) p.(Tyr27His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000185719 DNA SEQ - - GAMT 2 Gajja Salomons