Variant #0000411422 (NC_000019.9:g.1399899C>G, GAMT(NM_000156.5):c.220G>C)

Chromosome 19
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.1399899C>G
DNA change (hg38) g.1399900C>G
Published as -
ISCN -
DB-ID GAMT_012007 See all 6 reported entries
Variant remarks overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity
Reference Mahmutoglu et al, in preparation
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GAMT NM_000156.5 +/+ 2 c.220G>C r.(?) p.Ala74Pro