All transcript variants in gene TOR1AIP1

Information The variants shown are described using the NM_001267578.1 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.1184T>C r.(?) p.(Leu395Pro) - pathogenic (recessive) g.179886803T>C g.179917668T>C - - TOR1AIP1_000018 RNA allele imbalance PubMed: Cummings 2017 - - Germline - - - 0 - Johan den Dunnen
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