Variant #0000801776 (NC_000005.9:g.112103053A>G, APC(NM_000038.5):c.388A>G)

Chromosome 5
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.112103053A>G
DNA change (hg38) -
Published as APC(NM_000038.5):c.388A>G (p.(Ser130Gly)), APC(NM_001127510.1):c.388A>G (p.S130G)
ISCN -
DB-ID APC_001268 See all 5 reported entries
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) 0.00034 View details
Owner VKGL-NL_NKI
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_NKI
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

Exon_old     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     
APC NM_000038.5 -?/. - - c.388A>G r.(?) p.(Ser130Gly) - - -