FAM8A1 family with sequence similarity 8 member A1

Information
Symbol
FAM8A1
Type
protein-coding
Description
family with sequence similarity 8 member A1
Entrez Gene ID
51439
Genome
hg19
Position
chr6:17,600,533-17,611,946
Genome
hg38
Position
chr6:17,600,302-17,611,715
MIM
618409 OMIM
HGNC
HGNC:16372 HGNC
Ensembl
ENSG00000137414 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
42
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 AHCP
MIM 618409 OMIM
HGNC HGNC:16372 HGNC
Ensembl ENSG00000137414 Ensembl
AllianceGenome HGNC:16372
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000690940.1 hg38 chr6 17,600,406 17,611,719 11,314
ENST00000685064.1 hg38 chr6 17,601,161 17,608,769 7,609
ENST00000259963.4 hg38 chr6 17,600,302 17,611,715 11,414
ENST00000688732.1 hg38 chr6 17,600,363 17,611,694 11,332
ENST00000259963.4 hg19 chr6 17,600,533 17,611,946 11,414
ENST00000688732.1 hg19 chr6 17,600,594 17,611,925 11,332
ENST00000690940.1 hg19 chr6 17,600,637 17,611,950 11,314
ENST00000685064.1 hg19 chr6 17,601,392 17,609,000 7,609
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