chr5:112819347:AT> Detail (hg38) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,155,044-112,155,045 
hg38 chr5:112,819,347-112,819,348

HGVS

Type Transcript Protein
RefSeq NM_001127510.2:c.1312+3_1312+4delAT
NM_000038.5:c.1312+3_1312+4delAT
NM_001127511.2:c.1258+3_1258+4delAT
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 2014-08-14 criteria provided, single submitter not provided germline Detail
Pathogenic 2015-05-12 criteria provided, single submitter familial adenomatous polyposis 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.120 Polyposis, Adenomatous Intestinal NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000038.6(APC):c.1312+3_1312+4del AND not provided ClinVar Detail
NM_000038.6(APC):c.1312+3_1312+4del AND Familial adenomatous polyposis 1 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs730881228 dbSNP
Genome
hg38
Position
chr5:112,819,347-112,819,348
Variant Type
snv
Reference Allele
AT
Alternative Allele
-
Genome browser