chr18:51048861:G>A Detail (hg38) (SMAD4)

Information

Genome

Assembly Position
hg19 chr18:48,575,231-48,575,231 View the variant detail on this assembly version.
hg38 chr18:51,048,861-51,048,861

HGVS

Type Transcript Protein
RefSeq NM_005359.5:c.424+1G>A
Ensemble ENST00000714261.1:c.424+1G>A
ENST00000714264.1:c.424+1G>A
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 COSM3772574 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2017-11-21 criteria provided, single submitter Familial thoracic aortic aneurysm and aortic dissection,Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2017-11-21 criteria provided, single submitter Familial thoracic aortic aneurysm and aortic dissection,Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2023-03-07 criteria provided, multiple submitters, no conflicts juvenile polyposis syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.588 juvenile polyposis syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005359.6(SMAD4):c.424+1G>A AND multiple conditions ClinVar Detail
NM_005359.6(SMAD4):c.424+1G>A AND multiple conditions ClinVar Detail
NM_005359.6(SMAD4):c.424+1G>A AND Juvenile polyposis syndrome ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs377767386 dbSNP
Genome
hg38
Position
chr18:51,048,861-51,048,861
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser