Variant #0000975020 (NC_000002.11:g.220432488T>C, NM_015311.2:c.1486A>G (OBSL1))

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.220432488T>C
DNA change (hg38) -
Published as OBSL1(NM_015311.3):c.1486A>G (p.(Thr496Ala))
ISCN -
DB-ID INHA_000035
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) 1.0E-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
Date created 2024-04-19 20:20:39 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
INHA NM_002191.3 ?/. - c.-4609T>C r.(?) p.(=)
OBSL1 NM_015311.2 ?/. - c.1486A>G r.(?) p.(Thr496Ala)


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