Genomic variant #0000000001

Chromosome 8
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42320525T>A
ExAC MAF -
gnomAD MAF -
dbSNP ID -
Segregation ?
# Affected Unrelated 1
Zygosity -
ACMG class Pathogenic
Other Classification Authors: pathogenic
Reference [Hsu, 2013]
DB-ID SLC20A2_000001
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.514A>T 4 p.(Lys172*)