chr18:48604677:T>C Detail (hg19) (SMAD4)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr18:48,604,677-48,604,677
hg38	chr18:51,078,307-51,078,307 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1499T>C	NP_005350.1:p.Ile500Thr
Ensemble	ENST00000714261.1:c.1538T>C	ENST00000714261.1:p.Ile513Thr
	ENST00000588860.6:c.1499T>C	ENST00000588860.6:p.Ile500Thr
	ENST00000589076.6:c.1499T>C	ENST00000589076.6:p.Ile500Thr
	ENST00000589941.2:c.1499T>C	ENST00000589941.2:p.Ile500Thr
	ENST00000398417.6:c.1499T>C	ENST00000398417.6:p.Ile500Thr
	ENST00000590061.2:c.1499T>C	ENST00000590061.2:p.Ile500Thr
	ENST00000593223.2:c.*1496T>C
	ENST00000588745.5:c.1211T>C	ENST00000588745.5:p.Ile404Thr
	ENST00000342988.8:c.1499T>C	ENST00000342988.8:p.Ile500Thr
	ENST00000714264.1:c.1580T>C	ENST00000714264.1:p.Ile527Thr
	ENST00000714266.1:c.1286T>C	ENST00000714266.1:p.Ile429Thr
	ENST00000714268.1:c.1469T>C	ENST00000714268.1:p.Ile490Thr
	ENST00000714269.1:c.1271T>C	ENST00000714269.1:p.Ile424Thr
	ENST00000714270.1:c.1577T>C	ENST00000714270.1:p.Ile526Thr
	ENST00000714272.1:c.1475T>C	ENST00000714272.1:p.Ile492Thr

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

SMAD4

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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	unknown	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-07-13	criteria provided, multiple submitters, no conflicts	Myhre syndrome	germline unknown	Detail
Pathogenic	2021-04-20	criteria provided, single submitter	not provided	germline not provided unknown	Detail
Pathogenic	2021-03-25	criteria provided, single submitter	juvenile polyposis syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.482	Growth mental deficiency syndrome of Myhre	NA	CLINVAR		Detail
0.482	Growth mental deficiency syndrome of Myhre	Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndro...	UNIPROT	22158539	Detail

Annotation

Annotations

Descrption	Source	Links
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) AND Myhre syndrome	ClinVar	Detail
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) AND not provided	ClinVar	Detail
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) AND Juvenile polyposis syndrome	ClinVar	Detail
NA	DisGeNET	Detail
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.	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: rs281875321 dbSNP
Genome: hg19
Position: chr18:48,604,677-48,604,677
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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