Variant #0000828287 (NC_000012.11:g.56495316C>T, NM_001982.3:c.3506C>T (ERBB3))

Individual ID 00204350
Chromosome 12
Allele Maternal (confirmed)
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.56495316C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID ERBB3_000032 See all 2 reported entries
Variant remarks -
Reference PubMed: Joziasse 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-12-05 14:51:38 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ERBB3 NM_001982.3 ?/. - c.3506C>T r.(?) p.(Thr1169Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000205380 DNA SEQ - - ACVR1 3 LOVD


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