chr5:112173384:T>A Detail (hg19) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,173,384-112,173,384
hg38 chr5:112,837,687-112,837,687 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.2093T>A NP_000029.2:p.Leu698Ter
NM_001127511.2:c.2039T>A NP_001120983.2:p.Leu680Ter
NM_001127510.2:c.2093T>A NP_001120982.1:p.Leu698Ter
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 1999-01-01 no assertion criteria provided Gardner syndrome germline Detail
Pathogenic 2020-04-02 criteria provided, single submitter familial adenomatous polyposis 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.245 Gardner syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000038.6(APC):c.2093T>A (p.Leu698Ter) AND Gardner syndrome ClinVar Detail
NM_000038.6(APC):c.2093T>A (p.Leu698Ter) 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
rs137854582 dbSNP
Genome
hg19
Position
chr5:112,173,384-112,173,384
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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