Variant #0000053110 (NC_000008.10:g.22020609T>C, SFTPC(NM_003018.3):c.218T>C)

Individual ID 00029673
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 Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Donatella Peca
Database submission license No license selected
Created by Donatella Peca
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     
0000029715 DNA SEQ - - SFTPC 1 Donatella Peca