chr4:126373626:C>T Detail (hg19) (FAT4)

Information

Genome

Assembly Position
hg19 chr4:126,373,626-126,373,626
hg38 chr4:125,452,471-125,452,471 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001291285.1:c.11461C>T NP_001278214.1:p.Arg3821Ter
NM_001291303.1:c.11461C>T NP_001278232.1:p.Arg3821Ter
NM_024582.4:c.11461C>T NP_078858.4:p.Arg3821Ter
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 COSM1426928 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
Pathogenic 2023-03-19 criteria provided, single submitter not provided 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.11461C>T (p.Arg3821Ter) AND Van Maldergem syndrome 2 ClinVar Detail
NM_001291303.3(FAT4):c.11461C>T (p.Arg3821Ter) AND not provided 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
rs398122957 dbSNP
Genome
hg19
Position
chr4:126,373,626-126,373,626
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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