FRMPD1 FERM and PDZ domain containing 1

Information
Symbol
FRMPD1
Type
protein-coding
Description
FERM and PDZ domain containing 1
Entrez Gene ID
22844
Genome
hg19
Position
chr9:37,668,002-37,746,901
Genome
hg38
Position
chr9:37,668,005-37,746,904
MIM
616919 OMIM
HGNC
HGNC:29159 HGNC
Ensembl
ENSG00000070601 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 16
Likely benign 0 34
Uncertain significance 0 186
Ranking
ClinVar
0
0
2
230
2
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 FRMD2
MIM 616919 OMIM
HGNC HGNC:29159 HGNC
Ensembl ENSG00000070601 Ensembl
AllianceGenome HGNC:29159
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000377765.8 hg38 chr9 37,650,954 37,746,904 95,951
ENST00000539465.5 hg38 chr9 37,668,005 37,746,904 78,900
ENST00000377765.8 hg19 chr9 37,650,951 37,746,901 95,951
ENST00000539465.5 hg19 chr9 37,668,002 37,746,901 78,900
Genome browser