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.
Legend  

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.70C>G r.(?) p.(Pro24Ala) - likely benign g.179851707C>G g.179882572C>G TOR1AIP1(NM_001267578.1):c.70C>G (p.P24A) - TOR1AIP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.70C>G r.(?) p.(Pro24Ala) - - g.179851707C>G g.179882572C>G - - TOR1AIP1_000005 3 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs146976883 Germline - 3/2783 individuals - 0 - Mohammed Faruq
Legend