chr5:112819132:CT> Detail (hg38) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,154,829-112,154,830 
hg38 chr5:112,819,132-112,819,133

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.1100_1101delCT NP_000029.2:p.Ser367CysfsTer10
NM_001127511.2:c.1046_1047delCT NP_001120983.2:p.Ser349CysfsTer10
NM_001127510.2:c.1100_1101delCT NP_001120982.1:p.Ser367CysfsTer10
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/06/14 other germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/06/14 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Polyposis, Adenomatous Intestinal 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
rs387906237 dbSNP
Genome
hg38
Position
chr5:112,819,132-112,819,133
Variant Type
snv
Reference Allele
CT
Alternative Allele
-
Genome browser