chr5:112838157:GA> Detail (hg38) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,173,854-112,173,855 
hg38 chr5:112,838,157-112,838,158

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.2563_2564delGA NP_000029.2:p.Glu855ThrfsTer56
NM_001127511.2:c.2509_2510delGA NP_001120983.2:p.Glu837ThrfsTer56
NM_001127510.2:c.2563_2564delGA NP_001120982.1:p.Glu855ThrfsTer56
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
rs794727160 dbSNP
Genome
hg38
Position
chr5:112,838,157-112,838,158
Variant Type
snv
Reference Allele
GA
Alternative Allele
-
Genome browser