Variant #0000332047 (NC_000008.10:g.22011690C>G, SFTPC(NM_003018.3):c.-7652C>G)

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.22011690C>G
DNA change (hg38) g.22154177C>G
Published as LGI3(NM_139278.2):c.387G>C (p.(Lys129Asn))
ISCN -
DB-ID LGI3_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SFTPC NM_003018.3 ?/. - c.-7652C>G r.(?) p.(=)
LGI3 NM_139278.2 ?/. - c.387G>C r.(?) p.(Lys129Asn)