Variant #0000561251 (NC_000017.10:g.37871547C>A, PGAP3(NM_033419.3):c.-27280G>T)

Chromosome 17
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.37871547C>A
DNA change (hg38) g.39715294C>A
Published as ERBB2(NM_001289936.1):c.1112C>A (p.A371D)
ISCN -
DB-ID ERBB2_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) 0.00381 View details
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.1067C>A r.(?) p.(Ala356Asp)
PGAP3 NM_033419.3 -?/. - c.-27280G>T r.(?) p.(=)