chr5:112801279:AG> Detail (hg38) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,136,976-112,136,977 
hg38 chr5:112,801,279-112,801,280

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.730_731delAG NP_000029.2:p.Arg244ValfsTer7
NM_001127511.2:c.676_677delAG NP_001120983.2:p.Arg226ValfsTer7
NM_001127510.2:c.730_731delAG NP_001120982.1:p.Arg244ValfsTer7
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
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
rs387906228 dbSNP
Genome
hg38
Position
chr5:112,801,279-112,801,280
Variant Type
snv
Reference Allele
AG
Alternative Allele
-
Genome browser