Variant #0000660231 (NC_000008.10:g.22020695G>A, SFTPC(NM_003018.3):c.304G>A)

Individual ID 00296516
Chromosome 8
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.22020695G>A
DNA change (hg38) g.22163182G>A
Published as -
ISCN -
DB-ID SFTPC_000003 See all 2 reported entries
Variant remarks -
Reference PubMed: Fattori 2019
ClinVar ID -
dbSNP ID rs772568845
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Joanne van der Vis
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SFTPC NM_003018.3 ?/? 3 c.304G>A r.(?) p.(Val102Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297626 DNA SEQ - - SFTPC 1 Joanne van der Vis