Genomic variant #0000000057

Chromosome 8
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.42317443_42317444delAC
ExAC MAF -
gnomAD MAF -
dbSNP ID rs39122397
Segregation -
# Affected Unrelated 1
Zygosity -
ACMG class Pathogenic
Other Classification Authors: pathogenic; ClinVar: pathogenic
Reference [Hsu, 2013]
DB-ID SLC20A2_000026
Average frequency (large NGS studies) Variant not found in online data sets
Owner Coppola Lab UCLA (Andrea Legati)




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Exon     

Protein     
SLC20A2 NM_006749.4 +?/? c.583_584delGT 5 p.(Val195Leufs*62)