Variant #0000514853 (NC_000002.11:g.220432090C>T, OBSL1(NM_001173408.1):c.1742G>A)

Chromosome 2
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.220432090C>T
DNA change (hg38) g.219567368C>T
Published as OBSL1(NM_015311.2):c.1742G>A (p.C581Y)
ISCN -
DB-ID INHA_000007
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) 6.0E-5 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.1742G>A r.(?) p.(Cys581Tyr)
INHA NM_002191.3 ?/. - c.-5007C>T r.(?) p.(=)