Full data view for gene SLC20A2

Information The variants shown are described using the NM_006749.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

AscendingDNA change (cDNA)     

Exon     

Protein     

Allele     

DNA change (genomic) (hg19)     

ExAC MAF     

gnomAD MAF     

dbSNP ID     

Segregation     

# Affected Unrelated     

Zygosity     

ACMG class     

Other Classification     

Reference     

DB-ID     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/. c.730+1G>A 6i p.? Unknown g.42302163C>T - - - yes - - Pathogenic - [Huang, 2019] SLC20A2_000107 - - - - - - -
?/. c.730+1G>A 6i p.? Unknown g.42302163C>T - - - - - - Pathogenic - [Guo, 2019] SLC20A2_000107 - - - - - - -
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