Variant #0000534560 (NC_000008.10:g.22020679C>T, BMP1(NM_006129.4):c.-2240C>T)

Chromosome 8
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.22020679C>T
DNA change (hg38) g.22163166C>T
Published as SFTPC(NM_003018.3):c.288C>T (p.I96=)
ISCN -
DB-ID SFTPC_000024
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) 0.00335 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SFTPC NM_003018.3 -?/. - c.288C>T r.(?) p.(Ile96=)
BMP1 NM_006129.4 -?/. - c.-2240C>T r.(?) p.(=)