ISCA2 iron-sulfur cluster assembly 2

Information
Symbol
ISCA2
Type
protein-coding
Description
iron-sulfur cluster assembly 2
Entrez Gene ID
122961
Genome
hg19
Position
chr14:74,960,468-74,963,809
Genome
hg38
Position
chr14:74,493,765-74,497,106
MIM
615317 OMIM
HGNC
HGNC:19857 HGNC
Ensembl
ENSG00000165898 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 6
Benign 0 4
Likely benign 0 50
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 64
Ranking
ClinVar
0
0
18
108
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 HBLD1
SYNONYM ISA2
SYNONYM MMDS4
SYNONYM c14_5557
MIM 615317 OMIM
HGNC HGNC:19857 HGNC
Ensembl ENSG00000165898 Ensembl
AllianceGenome HGNC:19857
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000554924.1 hg38 chr14 74,493,765 74,495,130 1,366
ENST00000298818.12 hg38 chr14 74,493,756 74,495,366 1,611
ENST00000556816.6 hg38 chr14 74,493,765 74,497,106 3,342
ENST00000298818.12 hg19 chr14 74,960,459 74,962,069 1,611
ENST00000554924.1 hg19 chr14 74,960,468 74,961,833 1,366
ENST00000556816.6 hg19 chr14 74,960,468 74,963,809 3,342
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