Variant #0000858373 (NC_000002.11:g.220432786dup, NM_015311.2:c.1273dup (OBSL1))

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.220432786dup
DNA change (hg38) -
Published as OBSL1(NM_001173408.1):c.1273dup (p.(Thr425Asnfs*40)), OBSL1(NM_015311.3):c.1273dupA (p.T425Nfs*40)
ISCN -
DB-ID INHA_000029
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) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2022-05-09 15:51:19 +02:00 (CEST)
Date last edited 2024-08-28 13:07:21 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
INHA NM_002191.3 +/. - c.-4311dup r.(?) p.(=)
OBSL1 NM_015311.2 +/. - c.1273dup r.(?) p.(Thr425Asnfs*40)


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