chr18:51076680:GCGGCTACTGCACAAGCTGCAGCAG> Detail (hg38) (SMAD4)

Information

Genome

Assembly Position
hg19 chr18:48,603,050-48,603,074 
hg38 chr18:51,076,680-51,076,704

HGVS

Type Transcript Protein
RefSeq NM_005359.5:c.1351_1375delGCGGCTACTGCACAAGCTGCAGCAG NP_005350.1:p.Ala451LeufsTer17
Ensemble ENST00000342988.8:c.1351_1375delGCGGCTACTGCACAAGCTGCAGCAG ENST00000342988.8:p.Ala451LeufsTer17
ENST00000398417.6:c.1351_1375delGCGGCTACTGCACAAGCTGCAGCAG ENST00000398417.6:p.Ala451LeufsTer17
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 600993 OMIM
HGNC 6770 HGNC
Ensembl ENSG00000141646 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM5761112 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2013-04-17 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Likely pathogenic 2021-05-10 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2017-12-12 criteria provided, single submitter Hereditary cancer-predisposing syndrome,Familial thoracic aortic aneurysm and aortic dissection germline Detail
Pathogenic 2017-12-12 criteria provided, single submitter Hereditary cancer-predisposing syndrome,Familial thoracic aortic aneurysm and aortic dissection germline Detail
Pathogenic 2023-07-14 criteria provided, single submitter juvenile polyposis syndrome germline Detail
Pathogenic 2024-02-09 criteria provided, single submitter Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) AND not provided ClinVar Detail
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) AND multiple conditions ClinVar Detail
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) AND multiple conditions ClinVar Detail
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) AND Juvenile polyposis syndrome ClinVar Detail
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) AND Juvenile polyposis/hereditary hemorrhagic telangi... 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
rs587780124 dbSNP
Genome
hg38
Position
chr18:51,076,680-51,076,704
Variant Type
snv
Reference Allele
GCGGCTACTGCACAAGCTGCAGCAG
Alternative Allele
-
Genome browser