Genomic variant #0000000215

Individual ID 00000088
Chromosome 8
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42329838A>G
ExAC MAF -
gnomAD MAF -
dbSNP ID -
Segregation -
# Affected Unrelated -
Zygosity -
ACMG class Likely Pathogenic
Other Classification -
Reference [Guo, 2019]
DB-ID SLC20A2_000109
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.71T>C 2 p.(Val24Ala)



Screenings

Stop! No screenings found!