All variants in the SFTPC gene

Information The variants shown are described using the NM_003018.3 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
+/. 5 c.377T>G r.(?) p.(Ile126Arg) - pathogenic g.22021001T>G g.22163488T>G - - SFTPC_000015 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - 0 - Johan den Dunnen
Legend   How to query