chr5:112177417:TATAAGCTCCGCAATG> Detail (hg19) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,177,417-112,177,432
hg38 chr5:112,841,720-112,841,735 

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.6126_6141delTATAAGCTCCGCAATG NP_000029.2:p.Ile2043GlnfsTer25
NM_001127511.2:c.6072_6087delTATAAGCTCCGCAATG NP_001120983.2:p.Ile2025GlnfsTer25
NM_001127510.2:c.6126_6141delTATAAGCTCCGCAATG NP_001120982.1:p.Ile2043GlnfsTer25
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 2014-12-08 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-05-15 criteria provided, single submitter familial adenomatous polyposis 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000038.6(APC):c.6126_6141del (p.Ile2043fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000038.6(APC):c.6126_6141del (p.Ile2043fs) AND Familial adenomatous polyposis 1 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
rs786203024 dbSNP
Genome
hg19
Position
chr5:112,177,417-112,177,432
Variant Type
snv
Reference Allele
TATAAGCTCCGCAATG
Alternative Allele
-
Genome browser