Variant #0000000013 (NC_000001.10:g.100327088A>G, AGL(NM_000642.2):c.112A>G)

Individual ID 00000004, 00079987
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.100327088A>G
DNA change (hg38) g.99861532A>G
Published as -
ISCN -
DB-ID AGL_000016 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00362 View details
Owner Gerard C.P. Schaafsma
Database submission license No license selected
Created by Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGL NM_000642.2 ?/. 3 c.112A>G r.(?) p.(Thr38Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000004 DNA SEQ-NG - - ACADM, AGL, DPYD, ETFB, GAA, HESX1, NHLRC1, NPHS1, SBDS, SLC26A2, SMPD1 13 Global Variome, with Curator vacancy
0000080066 DNA SEQ blood - - 2 Francesca Marta Elli