Variant #0000548680 (NC_000012.11:g.56490338A>C, NM_001982.3:c.2107A>C (ERBB3))

Chromosome 12
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.56490338A>C
DNA change (hg38) g.56096554A>C
Published as ERBB3(NM_001982.3):c.2107A>C (p.(Ile703Leu))
ISCN -
DB-ID ERBB3_000014
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 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2022-05-09 15:24:52 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ERBB3 NM_001982.3 -?/. - c.2107A>C r.(?) p.(Ile703Leu)


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