FRMD7 FERM domain containing 7

Information
Symbol
FRMD7
Type
protein-coding
Description
FERM domain containing 7
Entrez Gene ID
90167
Genome
hg19
Position
chrX:131,211,018-131,262,048
Genome
hg38
Position
chrX:132,076,990-132,128,020
MIM
300628 OMIM
HGNC
HGNC:8079 HGNC
Ensembl
ENSG00000165694 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 66
Likely pathogenic 0 18
Benign 0 118
Likely benign 0 152
Conflicting classifications of pathogenicity 0 48
not provided 6 0
Uncertain significance 0 394
Ranking
ClinVar
0
0
78
640
16
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 NYS
SYNONYM NYS1
SYNONYM XIPAN
MIM 300628 OMIM
HGNC HGNC:8079 HGNC
Ensembl ENSG00000165694 Ensembl
AllianceGenome HGNC:8079
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000298542.9 hg38 chrX 132,076,990 132,128,020 51,031
ENST00000464296.1 hg38 chrX 132,077,872 132,127,844 49,973
ENST00000370879.5 hg38 chrX 132,076,993 132,094,263 17,271
ENST00000298542.9 hg19 chrX 131,211,018 131,262,048 51,031
ENST00000370879.5 hg19 chrX 131,211,021 131,228,291 17,271
ENST00000464296.1 hg19 chrX 131,211,900 131,261,872 49,973
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