Variant #0000150752 (NC_000008.10:g.22021059G>C, SFTPC(NM_003018.3):c.435G>C)

Individual ID 00090135
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>C
DNA change (hg38) g.22163546G>C
Published as -
ISCN -
DB-ID SFTPC_000006
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
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>C r.325_435del p.Leu109_Gln145del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000090279 DNA SEQ - - SFTPC 1 Pascale Fanen