EHD1 EH domain containing 1

Information
Symbol
EHD1
Type
protein-coding
Description
EH domain containing 1
Entrez Gene ID
10938
Genome
hg19
Position
chr11:64,620,199-64,647,185
Genome
hg38
Position
chr11:64,852,727-64,879,713
MIM
605888 OMIM
HGNC
HGNC:3242 HGNC
Ensembl
ENSG00000110047 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 10
Uncertain significance 0 60
Ranking
ClinVar
0
0
0
80
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 H-PAST
SYNONYM HPAST1
SYNONYM PAST
SYNONYM PAST1
MIM 605888 OMIM
HGNC HGNC:3242 HGNC
Ensembl ENSG00000110047 Ensembl
AllianceGenome HGNC:3242
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000621096.4 hg38 chr11 64,852,727 64,879,713 26,987
ENST00000359393.6 hg38 chr11 64,852,731 64,879,677 26,947
ENST00000320631.8 hg38 chr11 64,851,642 64,878,621 26,980
ENST00000320631.8 hg19 chr11 64,619,114 64,646,093 26,980
ENST00000621096.4 hg19 chr11 64,620,199 64,647,185 26,987
ENST00000359393.6 hg19 chr11 64,620,203 64,647,149 26,947
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