Genomic variant #0000000141

Chromosome 8
Allele Maternal (inferred)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(42323436_42329619)_(42330173_42358548)del
ExAC MAF -
gnomAD MAF -
dbSNP ID -
Segregation yes
# Affected Unrelated 2
Zygosity -
ACMG class Pathogenic
Other Classification Authors: likely pathogenic
Reference [David, 2016]
DB-ID SLC20A2_000072 See all 2 reported entries
Average frequency (large NGS studies) Variant not found in online data sets
Owner Coppola Lab UCLA (EMR)




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Exon     

Protein     
SLC20A2 NM_006749.4 +?/. c.(-265+1_-264-1)_(289+1_290-1)del 1i_2i p.?