Variant #0000150761 (NC_000008.10:g.22020609T>C, SFTPC(NM_003018.3):c.218T>C)

Individual ID 00092294
Chromosome 8
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.22020609T>C
DNA change (hg38) g.22163096T>C
Published as -
ISCN -
DB-ID SFTPC_000001 See all 16 reported entries
Variant remarks -
Reference PubMed: Peca 2015, Journal: Peca 2015
ClinVar ID -
dbSNP ID rs121917834
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SFTPC NM_003018.3 +/. 3 c.218T>C r.(?) p.(Ile73Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000092434 DNA SEQ - - SFTPC 1 Johan den Dunnen