Variant #0000267861 (NC_000017.10:g.37884037C>G, PGAP3(NM_033419.3):c.-39770G>C)

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.37884037C>G
DNA change (hg38) g.39727784C>G
Published as ERBB2(NM_001005862.2):c.3418C>G (p.P1140A)
ISCN -
DB-ID ERBB2_000004
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) 0.61176 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.3418C>G r.(?) p.(Pro1140Ala)
MIEN1 NM_032339.3 -/. - c.*1738G>C r.(=) p.(=)
PGAP3 NM_033419.3 -/. - c.-39770G>C r.(?) p.(=)