Variant #0000614655 (NC_000013.10:g.48807582del, NM_021999.4:c.86del (ITM2B))

Chromosome 13
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.48807582del
DNA change (hg38) g.48233446del
Published as ITM2B(NM_021999.5):c.86delT (p.I29Tfs*33)
ISCN -
DB-ID ITM2B_000008
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_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2020-07-03 16:56:15 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ITM2B NM_021999.4 ?/. - c.86del r.(?) p.(Ile29ThrfsTer33)


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