Variant #0000660235 (NC_000008.10:g.22021021A>C, SFTPC(NM_003018.3):c.397A>C)

Individual ID 00296520
Chromosome 8
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.22021021A>C
DNA change (hg38) g.22163508A>C
Published as -
ISCN -
DB-ID SFTPC_000034
Variant remarks -
Reference PubMed: Kazzi 2018
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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 +?/+? 4 c.397A>C r.(?) p.(Ser133Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297630 DNA SEQ-NG-I - - SFTPC 1 Joanne van der Vis