Variant #0000534559 (NC_000008.10:g.22013900G>C, SFTPC(NM_003018.3):c.-5442G>C)

Chromosome 8
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.22013900G>C
DNA change (hg38) g.22156387G>C
Published as LGI3(NM_139278.3):c.156C>G (p.C52W)
ISCN -
DB-ID LGI3_000003
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SFTPC NM_003018.3 ?/. - c.-5442G>C r.(?) p.(=)
LGI3 NM_139278.2 ?/. - c.156C>G r.(?) p.(Cys52Trp)