Genomic variant #0000089358

Individual ID 00058796
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.154560623C>A
DNA change (hg38) g.154588147C>A
Published as -
ISCN -
DB-ID ADAR_000008
Variant remarks -
Reference PubMed: Rice 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADAR NM_001111.4 +?/+ 11 c.2997G>T r.(?) p.(Lys999Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000058758 DNA SEQ - - ADAR 1 Johan den Dunnen