FAHD2A fumarylacetoacetate hydrolase domain containing 2A

Information
Symbol
FAHD2A
Type
protein-coding
Description
fumarylacetoacetate hydrolase domain containing 2A
Entrez Gene ID
51011
Genome
hg19
Position
chr2:96,068,456-96,082,364
Genome
hg38
Position
chr2:95,402,708-95,416,616
HGNC
HGNC:24252 HGNC
Ensembl
ENSG00000115042 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 48
Ranking
ClinVar
0
0
0
52
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CGI-105
HGNC HGNC:24252 HGNC
Ensembl ENSG00000115042 Ensembl
AllianceGenome HGNC:24252
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000233379.9 hg38 chr2 95,402,708 95,416,616 13,909
ENST00000447036.5 hg38 chr2 95,402,723 95,413,096 10,374
ENST00000233379.9 hg19 chr2 96,068,456 96,082,364 13,909
ENST00000447036.5 hg19 chr2 96,068,471 96,078,844 10,374
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