chr5:112838682:A>T Detail (hg38) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,174,379-112,174,379 View the variant detail on this assembly version.
hg38 chr5:112,838,682-112,838,682

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.3088A>T NP_000029.2:p.Lys1030Ter
NM_001127511.2:c.3034A>T NP_001120983.2:p.Lys1012Ter
NM_001127510.2:c.3088A>T NP_001120982.1:p.Lys1030Ter
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 COSM1245175 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-07-17 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2019-11-08 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.3088A>T (p.Lys1030Ter) AND not provided ClinVar Detail
NM_000038.6(APC):c.3088A>T (p.Lys1030Ter) AND Familial adenomatous polyposis 1 ClinVar Detail
NA DisGeNET 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
rs587779786 dbSNP
Genome
hg38
Position
chr5:112,838,682-112,838,682
Variant Type
snv
Reference Allele
A
Alternative Allele
T
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