HEPHL1 hephaestin like 1

Information
Symbol
HEPHL1
Type
protein-coding
Description
hephaestin like 1
Entrez Gene ID
341208
Genome
hg19
Position
chr11:93,754,520-93,847,374
Genome
hg38
Position
chr11:94,021,354-94,114,208
MIM
618455 OMIM
HGNC
HGNC:30477 HGNC
Ensembl
ENSG00000181333 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 6
Benign 0 22
Likely benign 0 28
Uncertain significance 0 154
Ranking
ClinVar
0
0
10
196
6
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 :
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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 HJDD
SYNONYM ZP
MIM 618455 OMIM
HGNC HGNC:30477 HGNC
Ensembl ENSG00000181333 Ensembl
AllianceGenome HGNC:30477
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000315765.10 hg38 chr11 94,021,354 94,114,208 92,855
ENST00000315765.10 hg19 chr11 93,754,520 93,847,374 92,855
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