FAM3A FAM3 metabolism regulating signaling molecule A

Information
Symbol
FAM3A
Type
protein-coding
Description
FAM3 metabolism regulating signaling molecule A
Entrez Gene ID
60343
Genome
hg19
Position
chrX:153,734,491-153,744,566
Genome
hg38
Position
chrX:154,506,160-154,516,242
MIM
300492 OMIM
HGNC
HGNC:13749 HGNC
Ensembl
ENSG00000071889 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 6
Conflicting classifications of pathogenicity 0 2
not provided 6 0
Uncertain significance 0 6
Ranking
ClinVar
0
0
0
16
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 2.19
SYNONYM DLD
SYNONYM DXS560S
SYNONYM XAP-7
MIM 300492 OMIM
HGNC HGNC:13749 HGNC
Ensembl ENSG00000071889 Ensembl
AllianceGenome HGNC:13749
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000447601.7 hg38 chrX 154,506,171 154,516,232 10,062
ENST00000393572.5 hg38 chrX 154,506,640 154,516,160 9,521
ENST00000322269.10 hg38 chrX 154,506,160 154,516,242 10,083
ENST00000359889.9 hg38 chrX 154,506,159 154,516,236 10,078
ENST00000369643.5 hg38 chrX 154,506,171 154,516,116 9,946
ENST00000369641.7 hg38 chrX 154,506,535 154,516,238 9,704
ENST00000419205.5 hg38 chrX 154,506,160 154,516,242 10,083
ENST00000322269.10 hg19 chrX 153,734,491 153,744,566 10,076
ENST00000359889.9 hg19 chrX 153,734,490 153,744,560 10,071
ENST00000419205.5 hg19 chrX 153,734,491 153,744,566 10,076
ENST00000369643.5 hg19 chrX 153,734,502 153,744,440 9,939
ENST00000369641.7 hg19 chrX 153,734,866 153,744,562 9,697
ENST00000393572.5 hg19 chrX 153,734,971 153,744,484 9,514
ENST00000447601.7 hg19 chrX 153,734,502 153,744,556 10,055
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