All variants in the PHF21A gene

Information The variants shown are described using the NM_001101802.1 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.270dup r.(?) p.(Pro91Thrfs*82) ACMG pathogenic (dominant) g.46001402dup g.45979851dup - - PHF21A_000031 ACMG: PVS1, PS2_SUP, PM2_SUP; confirmed de novo in trio-exome - - - De novo - - - - - Andreas Laner
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