FAAP100 FA core complex associated protein 100

Information
Symbol
FAAP100
Type
protein-coding
Description
FA core complex associated protein 100
Entrez Gene ID
80233
Genome
hg19
Position
chr17:79,506,917-79,519,379
Genome
hg38
Position
chr17:81,539,891-81,552,353
MIM
611301 OMIM
HGNC
HGNC:26171 HGNC
Ensembl
ENSG00000185504 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 12
Uncertain significance 0 106
Ranking
ClinVar
0
0
0
118
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
[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 C17orf70
MIM 611301 OMIM
HGNC HGNC:26171 HGNC
Ensembl ENSG00000185504 Ensembl
AllianceGenome HGNC:26171
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000327787.13 hg38 chr17 81,539,891 81,552,353 12,463
ENST00000425898.2 hg38 chr17 81,539,886 81,548,498 8,613
ENST00000425898.2 hg19 chr17 79,506,912 79,515,524 8,613
ENST00000327787.13 hg19 chr17 79,506,917 79,519,379 12,463
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