Genomic variant #0000394825

Individual ID 00174068
Chromosome 12
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.46245317_46245318delAG
DNA change (hg38) -
Published as -
ISCN -
DB-ID ARID2_000013
Variant remarks -
Reference PubMed: Bramswig 2017
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Julia Lopez




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ARID2 NM_152641.2 ?/. 12 c.3411_3412del - r.(?) p.(Gly1139Serfs*20)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174958 DNA SEQ - - ARID2 1 Julia Lopez