Variant #0000411175 (NC_000019.9:g.1399917C>A, GAMT(NM_000156.5):c.202G>T)

Individual ID 00184795
Chromosome 19
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.1399917C>A
DNA change (hg38) g.1399918C>A
Published as -
ISCN -
DB-ID GAMT_012040 See all 5 reported entries
Variant remarks -
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) Variant not found in online data sets
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 +/+ 2 c.202G>T r.(?) p.(Gly68Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000185762 DNA SEQ - - GAMT 2 Gajja Salomons