Genomic variant #0000000843

Individual ID 00000077
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.241808308C>A
DNA change (hg38) g.240868891C>A
Published as -
ISCN -
DB-ID AGXT_000003 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.0067 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AGXT NM_000030.2 ?/. - c.26C>A - r.(?) p.(Thr9Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000077 DNA SEQ-NG - - AGXT, ATP7B, ETFB, GLB1, MYO5A, NPHS1, SERPINA1, SLC26A2, USH2A 10 LOVD-team, but with Curator vacancy