All variants in the SFTPC gene

Information The variants shown are described using the NM_003018.3 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     
+/. 4 c.435G>A r.(325_435del) p.(Leu109_Gln145del) - pathogenic g.22021059G>A g.22163546G>A - - SFTPC_000008 - - - - Germline/De novo (untested) - - - 0 - Pascale Fanen
+/. 4 c.435G>A r.325_435del p.Leu109_Gln145del - pathogenic g.22021059G>A g.22163546G>A - - SFTPC_000008 - PubMed: Litao 2017, Journal: Litao 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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