chr4:125434349:G>A Detail (hg38) (FAT4)

Information

Genome

Assembly Position
hg19 chr4:126,355,504-126,355,504 View the variant detail on this assembly version.
hg38 chr4:125,434,349-125,434,349

HGVS

Type Transcript Protein
RefSeq NM_001291285.1:c.7123G>A NP_001278214.1:p.Glu2375Lys
NM_001291303.1:c.7123G>A NP_001278232.1:p.Glu2375Lys
NM_024582.4:c.7123G>A NP_078858.4:p.Glu2375Lys
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
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 2014-09-01 no assertion criteria provided Van Maldergem syndrome 2 germline Detail
Pathogenic 2014-09-01 no assertion criteria provided Hennekam lymphangiectasia-lymphedema 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

DescrptionSourceLinks
NM_001291303.3(FAT4):c.7123G>A (p.Glu2375Lys) AND Van Maldergem syndrome 2 ClinVar Detail
NM_001291303.3(FAT4):c.7123G>A (p.Glu2375Lys) AND Hennekam lymphangiectasia-lymphedema 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
rs398122955 dbSNP
Genome
hg38
Position
chr4:125,434,349-125,434,349
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser