chr18:48591939:TC> Detail (hg19) (SMAD4)

Information

Genome

Assembly Position
hg19 chr18:48,591,939-48,591,940
hg38 chr18:51,065,569-51,065,570 

HGVS

Type Transcript Protein
RefSeq NM_005359.5:c.1102_1103delTC NP_005350.1:p.Ser368GlnfsTer9
Ensemble ENST00000342988.8:c.1102_1103delTC ENST00000342988.8:p.Ser368GlnfsTer9
ENST00000398417.6:c.1102_1103delTC ENST00000398417.6:p.Ser368GlnfsTer9
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.361 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs377767351 dbSNP
Genome
hg19
Position
chr18:48,591,939-48,591,940
Variant Type
snv
Reference Allele
TC
Alternative Allele
-
Genome browser