chr5:112151253:CT> Detail (hg19) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,151,253-112,151,254
hg38 chr5:112,815,556-112,815,557 

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.896_897delCT NP_000029.2:p.Ser299CysfsTer27
NM_001127511.2:c.842_843delCT NP_001120983.2:p.Ser281CysfsTer27
NM_001127510.2:c.896_897delCT NP_001120982.1:p.Ser299CysfsTer27
Summary

MGeND

Clinical significance not provided
Variant entry 4
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 COSM18847 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectosigmoid junction not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.777 Adenomatous Polyposis Coli NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs397515735 dbSNP
Genome
hg19
Position
chr5:112,151,253-112,151,254
Variant Type
snv
Reference Allele
CT
Alternative Allele
-
Genome browser