chr5:112174453:C> Detail (hg19) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,174,453-112,174,453
hg38 chr5:112,838,756-112,838,756 

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.3162delC NP_000029.2:p.His1054GlnfsTer2
NM_001127511.2:c.3108delC NP_001120983.2:p.His1036GlnfsTer2
NM_001127510.2:c.3162delC NP_001120982.1:p.His1054GlnfsTer2
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
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
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2013-11-14 criteria provided, single submitter Familial multiple polyposis syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.777 Adenomatous Polyposis Coli NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000038.6(APC):c.3162del (p.His1054fs) AND Familial multiple polyposis syndrome ClinVar Detail
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
rs397515733 dbSNP
Genome
hg19
Position
chr5:112,174,453-112,174,453
Variant Type
snv
Reference Allele
C
Alternative Allele
-
Genome browser