Unique variants in the PEX11A gene

Information The variants shown are described using the NM_003847.1 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

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     
?/. 2 - c.57-1993A>G r.(=) p.(=) - VUS g.90231770T>C g.89688539T>C - - PEX11A_000004 - - - - Germline - - - - - Yu Sun
?/. 1 - c.57-1693C>T r.(=) p.(=) - VUS g.90231470G>A g.89688239G>A - - PEX11A_000003 - - - - Germline - - - - - Yu Sun
?/. 2 - c.57-1621A>G r.(=) p.(=) - VUS g.90231398T>C g.89688167T>C - - PEX11A_000001 - - - - Germline - - - - - Yu Sun
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