Variant #0000267860 (NC_000017.10:g.37868715C>T, PGAP3(NM_033419.3):c.-24448G>A)

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.37868715C>T
DNA change (hg38) g.39712462C>T
Published as ERBB2(NM_001005862.2):c.1058+14C>T
ISCN -
DB-ID ERBB2_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.60785 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ERBB2 NM_001005862.1 -/. - c.1058+14C>T r.(=) p.(=)
PGAP3 NM_033419.3 -/. - c.-24448G>A r.(?) p.(=)