Genomic variant #0000394828

Individual ID 00174071
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.46231108T>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID ARID2_000011
Variant remarks Refseq reported:hg19
Reference PubMed: Shang L 2015
ClinVar ID -
dbSNP ID -
Origin Unknown
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 ?/. 6 c.1028T>A - r.(?) p.(Leu343*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174961 DNA SEQ - - ARID2 1 Julia Lopez