chr5:112828888:G>A Detail (hg38) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,164,585-112,164,585 View the variant detail on this assembly version.
hg38 chr5:112,828,888-112,828,888

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.1659G>A NP_000029.2:p.Trp553Ter
NM_001127511.2:c.1605G>A NP_001120983.2:p.Trp535Ter
NM_001127510.2:c.1659G>A NP_001120982.1:p.Trp553Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 611731 OMIM
HGNC 583 HGNC
Ensembl ENSG00000134982 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM5487109 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2013-02-21 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-10-27 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-05-02 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 1 germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Polyposis, Adenomatous Intestinal NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000038.6(APC):c.1659G>A (p.Trp553Ter) AND not provided ClinVar Detail
NM_000038.6(APC):c.1659G>A (p.Trp553Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000038.6(APC):c.1659G>A (p.Trp553Ter) AND Familial adenomatous polyposis 1 ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs398123116 dbSNP
Genome
hg38
Position
chr5:112,828,888-112,828,888
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser