Variant #0000262649 (NC_000005.9:g.112103066T>G, APC(NM_000038.5):c.401T>G)

Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.112103066T>G
DNA change (hg38) g.112767369T>G
Published as APC(NM_000038.4):c.401T>G (p.L134*)
ISCN -
DB-ID APC_001645
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) Variant not found in online data sets
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     

Exon_old     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     
APC NM_000038.5 +/. - - c.401T>G r.(?) p.(Leu134Ter) - - -