FAM50A family with sequence similarity 50 member A

Information
Symbol
FAM50A
Type
protein-coding
Description
family with sequence similarity 50 member A
Entrez Gene ID
9130
Genome
hg19
Position
chrX:153,672,488-153,679,002
Genome
hg38
Position
chrX:154,444,141-154,450,654
MIM
300453 OMIM
HGNC
HGNC:18786 HGNC
Ensembl
ENSG00000071859 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 8
Benign 0 2
Likely benign 0 12
Conflicting classifications of pathogenicity 0 2
not provided 6 0
Uncertain significance 0 50
Ranking
ClinVar
0
0
2
70
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
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 9F
SYNONYM DXS9928E
SYNONYM HXC-26
SYNONYM HXC26
SYNONYM MRXSA
SYNONYM XAP5
MIM 300453 OMIM
HGNC HGNC:18786 HGNC
Ensembl ENSG00000071859 Ensembl
AllianceGenome HGNC:18786
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000393600.8 hg38 chrX 154,444,141 154,450,654 6,514
ENST00000393600.8 hg19 chrX 153,672,488 153,679,002 6,515
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