All variants in the TTC19 gene

Information The variants shown are described using the NM_017775.3 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.-42G>T r.(=) p.(=) - pathogenic g.15903121G>T g.15999807G>T - - TTC19_000018 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs769078093 Germline - 1/2785 individuals - 0 - Mohammed Faruq
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