Variant #0000332050 (NC_000008.10:g.22021447C>T, BMP1(NM_006129.4):c.-1472C>T)

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.22021447C>T
DNA change (hg38) g.22163934C>T
Published as SFTPC(NM_001172357.1):c.469C>T (p.(Gln157Ter))
ISCN -
DB-ID SFTPC_000020
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SFTPC NM_003018.3 ?/. - c.487C>T r.(?) p.(Gln163Ter)
BMP1 NM_006129.4 ?/. - c.-1472C>T r.(?) p.(=)