Variant #0000651548 (NC_000005.9:g.112110003A>G, APC(NM_000038.5):c.423-1323A>G)

Individual ID 00293691
Chromosome 5
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.112110003A>G
DNA change (hg38) g.112774306A>G
Published as -
ISCN -
DB-ID APC_001906 See all 2 reported entries
Variant remarks 32 heterozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs79801520
Origin Germline
Segregation -
Frequency 32/2760 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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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.423-1323A>G r.(=) p.(=) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294859 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq