Variant #0000298160 (NC_000008.10:g.22021883G>A, BMP1(NM_006129.4):c.-1036G>A)

Chromosome 8
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.22021883G>A
DNA change (hg38) g.22164370G>A
Published as SFTPC(NM_001172357.2):c.*329G>A
ISCN -
DB-ID SFTPC_000023
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) 0.31583 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SFTPC NM_003018.3 -/. - c.*123G>A r.(=) p.(=)
BMP1 NM_006129.4 -/. - c.-1036G>A r.(?) p.(=)