chr5:112111412:ATAG> Detail (hg19) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,111,412-112,111,415
hg38 chr5:112,775,715-112,775,718 

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.509_512delATAG NP_000029.2:p.Asp170ValfsTer4
NM_001127510.2:c.509_512delATAG NP_001120982.1:p.Asp170ValfsTer4
NM_001127511.2:c.539_542delATAG NP_001120983.2:p.Asp180ValfsTer4
Summary

MGeND

Clinical significance Pathogenic
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 COSM6854236 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2019/08/01 other germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2019/08/01 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic Primary adenocarcinoma of colon (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
Pathogenic 2020/04/20 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
0.120 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
rs387906231 dbSNP
Genome
hg19
Position
chr5:112,111,412-112,111,415
Variant Type
snv
Reference Allele
ATAG
Alternative Allele
-
Genome browser