Genomic variant #0000000182

Chromosome 8
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42294842_42294843insA
ExAC MAF -
gnomAD MAF -
dbSNP ID -
Segregation -
# Affected Unrelated -
Zygosity -
ACMG class Pathogenic
Other Classification -
Reference [Ramos, 2018]
DB-ID SLC20A2_000089
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.1187_1188insT 8 p.(Pro397Alafs*18)