RAB40AL RAB40A like

Information
Symbol
RAB40AL
Type
protein-coding
Description
RAB40A like
Entrez Gene ID
282808
Genome
hg19
Position
chrX:102,192,200-102,193,228
Genome
hg38
Position
chrX:102,937,272-102,938,300
MIM
300405 OMIM
HGNC
HGNC:25410 HGNC
Ensembl
ENSG00000102128 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 18
Likely benign 0 4
Conflicting classifications of pathogenicity 0 2
not provided 6 0
Uncertain significance 0 26
Ranking
ClinVar
0
0
6
36
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
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 MRXSMP
SYNONYM RAR2
SYNONYM RLGP
MIM 300405 OMIM
HGNC HGNC:25410 HGNC
Ensembl ENSG00000102128 Ensembl
AllianceGenome HGNC:25410
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000218249.7 hg38 chrX 102,937,272 102,938,300 1,029
ENST00000218249.7 hg19 chrX 102,192,200 102,193,228 1,029
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