Variant #0000676531 (NC_000002.11:g.220431582C>T, OBSL1(NM_001173408.1):c.2104G>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.220431582C>T
DNA change (hg38) -
Published as OBSL1(NM_001173408.1):c.2104G>A (p.(Val702Met)), OBSL1(NM_015311.2):c.2104G>A (p.V702M)
ISCN -
DB-ID OBSL1_000045 See all 2 reported entries
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) 8.0E-5 View details
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     
OBSL1 NM_001173408.1 ?/. - c.2104G>A r.(?) p.(Val702Met)