Variant #0000325372 (NC_000017.10:g.37840878A>G, PGAP3(NM_033419.3):c.404T>C)

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.37840878A>G
DNA change (hg38) g.39684625A>G
Published as PGAP3(NM_033419.3):c.404T>C (p.(Met135Thr))
ISCN -
DB-ID PGAP3_000007
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) 0.00029 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ERBB2 NM_001005862.1 -?/. - c.-4035A>G r.(?) p.(=)
PGAP3 NM_033419.3 -?/. - c.404T>C r.(?) p.(Met135Thr)