UNC13D unc-13 homolog D

Information
Symbol
UNC13D
Type
protein-coding
Description
unc-13 homolog D
Entrez Gene ID
201294
Genome
hg19
Position
chr17:73,823,306-73,840,485
Genome
hg38
Position
chr17:75,827,225-75,844,404
MIM
608897 OMIM
HGNC
HGNC:23147 HGNC
Ensembl
ENSG00000092929 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 28 226
Likely pathogenic 0 98
Benign 0 128
Likely benign 0 1,472
Conflicting classifications of pathogenicity 0 148
not provided 0 2
Uncertain significance 0 1,022
Ranking
ClinVar
0
0
378
2,494
12
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 FHL3
SYNONYM HLH3
SYNONYM HPLH3
SYNONYM Munc13-4
MIM 608897 OMIM
HGNC HGNC:23147 HGNC
Ensembl ENSG00000092929 Ensembl
AllianceGenome HGNC:23147
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000207549.9 hg38 chr17 75,827,225 75,844,404 17,180
ENST00000412096.6 hg38 chr17 75,827,264 75,844,350 17,087
ENST00000207549.9 hg19 chr17 73,823,306 73,840,485 17,180
ENST00000412096.6 hg19 chr17 73,823,345 73,840,431 17,087
Genome browser