Variant #0000162950 (NC_000008.10:g.22021059G>A, SFTPC(NM_003018.3):c.435G>A)

Individual ID 00100240
Chromosome 8
Allele Unknown
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.22021059G>A
DNA change (hg38) g.22163546G>A
Published as -
ISCN -
DB-ID SFTPC_000008 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Pascale Fanen
Database submission license No license selected
Created by Pascale Fanen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SFTPC NM_003018.3 +/. 4 c.435G>A r.(325_435del) p.(Leu109_Gln145del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000100644 RNA RT-PCR - - SFTPC 1 Pascale Fanen