All transcript variants in gene TOR1AIP1

Information The variants shown are described using the NM_001267578.1 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.967+1G>A r.spl? p.? - - g.179883190G>A g.179914055G>A - - TOR1AIP1_000021 49 heterozygous; Clinindb (India) Faruq 2020, submtted - rs2274955 Germline - 49/2791 individuals - 0 - Mohammed Faruq
-/. - c.967+1G>A r.spl? p.? - benign g.179883190G>A g.179914055G>A - - TOR1AIP1_000021 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs2274955 Germline - 1/2791 individuals - 0 - Mohammed Faruq
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