chr4:125479743:G>T Detail (hg38) (FAT4)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr4:126,400,898-126,400,898 View the variant detail on this assembly version.
hg38	chr4:125,479,743-125,479,743

HGVS

FAT4

Type	Transcript	Protein
RefSeq	NM_001291285.1:c.12482G>T	NP_001278214.1:p.Cys4161Phe
	NM_001291303.1:c.12482G>T	NP_001278232.1:p.Cys4161Phe
	NM_024582.4:c.12482G>T	NP_078858.4:p.Cys4161Phe
Ensemble	ENST00000335110.5:c.7322-1778G>T
	ENST00000394329.9:c.12482G>T	ENST00000394329.9:p.Cys4161Phe
	ENST00000674496.2:c.7253G>T	ENST00000674496.2:p.Cys2418Phe

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

FAT4

Type	Database	ID	Link
Gene	MIM	612411	OMIM
	HGNC	23109	HGNC
	Ensembl	ENSG00000196159	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	2013-11-01	no assertion criteria provided	Van Maldergem syndrome 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	Van Maldergem syndrome 2	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001291303.3(FAT4):c.12482G>T (p.Cys4161Phe) AND Van Maldergem syndrome 2	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: rs398122953 dbSNP
Genome: hg38
Position: chr4:125,479,743-125,479,743
Variant Type: snv
Reference Allele: G
Alternative Allele: T

Genome browser