Variant #0001329183 (NC_000001.10:g.27057621A>C, NC_000001.10(NM_006015.4):c.1351-22A>C (ARID1A))

Individual ID 00000051
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.27057621A>C
Reference -
DB-ID ARID1A_000018 See all 2 reported entries
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.0588 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 00:41:43 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     
ARID1A NM_006015.4 ./. - c.1351-22A>C 1351 r.(=) p.(=) - intron 22
ARID1A NM_139135.2 ./. - c.1351-22A>C 1351 r.(=) p.(=) - intron 22



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000063 DNA SEQ-NG - - 51328 LOVD