PVALEF parvalbumin like EF-hand containing

Information
Symbol
PVALEF
Type
protein-coding
Description
parvalbumin like EF-hand containing
Entrez Gene ID
388428
Genome
hg19
Position
chr17:79,139,307-79,156,966
Genome
hg38
Position
chr17:81,165,507-81,183,166
HGNC
HGNC:40053 HGNC
Ensembl
ENSG00000225180 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 2
Ranking
ClinVar
0
0
0
4
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 AATK-AS1
HGNC HGNC:40053 HGNC
Ensembl ENSG00000225180 Ensembl
AllianceGenome HGNC:40053
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000637878.2 hg38 chr17 81,165,507 81,183,166 17,660
ENST00000637878.2 hg19 chr17 79,139,307 79,156,966 17,660
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