Variant #0000411375 (NC_000019.9:g.1401331del, GAMT(NM_000156.5):c.145del)

Individual ID 00184797
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.1401331del
DNA change (hg38) g.1401332del
Published as -
ISCN -
DB-ID GAMT_012054 See all 2 reported entries
Variant remarks -
Reference PubMed: Sempere 2009
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 +/+ 1 c.145del r.(?) p.(Tyr49Ilefs*65)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000185764 DNA SEQ - - GAMT 2 Gajja Salomons