Variant #0000858375 (NC_000002.11:g.220439979C>T, OBSL1(NM_001173408.1):c.-4025G>A)

Chromosome 2
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.220439979C>T
DNA change (hg38) -
Published as INHA(NM_002191.4):c.832C>T (p.R278W)
ISCN -
DB-ID INHA_000031
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) 0.00032 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     
OBSL1 NM_001173408.1 -?/. - c.-4025G>A r.(?) p.(=)
INHA NM_002191.3 -?/. - c.832C>T r.(?) p.(Arg278Trp)