All variants in the SFTPC gene

Information The variants shown are described using the NM_003018.3 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     
+/. 2 c.196G>A r.(?) p.(Glu66Lys) - pathogenic g.22020240G>A g.22162727G>A - - SFTPC_000002 - PubMed: Peca 2015, Journal: Peca 2015 - rs121917836 Unknown - - - 0 - Donatella Peca
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