Variant #0000172971 (NC_000008.10:g.22020619T>C, SFTPC(NM_003018.3):c.228T>C)

Individual ID 00106731
Chromosome 8
Allele Parent #1
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.22020619T>C
DNA change (hg38) g.22163106T>C
Published as -
ISCN -
DB-ID SFTPC_000011
Variant remarks variant not in 100 control chromosomes
Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
Reference PubMed: Nogee 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/34 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SFTPC NM_003018.3 +/. 4 c.228T>C r.(?) p.(Ile73Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107202 DNA SEQ - - SFTPC 1 Johan den Dunnen