Variant #0000561255 (NC_000017.10:g.37884223del, PGAP3(NM_033419.3):c.-39951del)

Chromosome 17
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.37884223del
DNA change (hg38) g.39727970del
Published as ERBB2(NM_001289936.1):c.3649delG (p.A1217Lfs*70)
ISCN -
DB-ID ERBB2_000012
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ERBB2 NM_001005862.1 ?/. - c.3604del r.(?) p.(Ala1202LeufsTer70)
MIEN1 NM_032339.3 ?/. - c.*1557del r.(?) p.(=)
PGAP3 NM_033419.3 ?/. - c.-39951del r.(?) p.(=)