Genomic variant #0000000013

Individual ID 00000004, 00079987
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
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 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01776 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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 LOVD-team, but with Curator vacancy
0000080066 DNA SEQ blood - - 2 Francesca Marta Elli