Variant #0000332052 (NC_000008.10:g.22023036C>G, BMP1(NM_006129.4):c.118C>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.22023036C>G
DNA change (hg38) g.22165523C>G
Published as BMP1(NM_001199.3):c.118C>G (p.(Pro40Ala))
ISCN -
DB-ID BMP1_000058
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.*1276C>G r.(=) p.(=)
BMP1 NM_006129.4 ?/. - c.118C>G r.(?) p.(Pro40Ala)