FAN1 FANCD2 and FANCI associated nuclease 1

Information
Symbol
FAN1
Type
protein-coding
Description
FANCD2 and FANCI associated nuclease 1
Entrez Gene ID
22909
Genome
hg19
Position
chr15:31,196,118-31,235,311
Genome
hg38
Position
chr15:30,903,915-30,943,108
MIM
613534 OMIM
HGNC
HGNC:29170 HGNC
Ensembl
ENSG00000198690 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 44
Likely pathogenic 0 12
Benign 0 118
Likely benign 0 212
Conflicting classifications of pathogenicity 0 12
not provided 5 0
Uncertain significance 0 236
Ranking
ClinVar
0
0
108
464
12
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 KIAA1018
SYNONYM KMIN
SYNONYM MTMR15
SYNONYM hFAN1
MIM 613534 OMIM
HGNC HGNC:29170 HGNC
Ensembl ENSG00000198690 Ensembl
AllianceGenome HGNC:29170
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000656435.1 hg38 chr15 30,903,864 30,943,085 39,222
ENST00000561607.6 hg38 chr15 30,903,892 30,911,640 7,749
ENST00000670849.1 hg38 chr15 30,903,886 30,942,931 39,046
ENST00000666143.1 hg38 chr15 30,903,928 30,910,999 7,072
ENST00000362065.9 hg38 chr15 30,903,915 30,943,108 39,194
ENST00000562892.2 hg38 chr15 30,904,229 30,910,965 6,737
ENST00000657391.1 hg38 chr15 30,903,864 30,942,767 38,904
ENST00000664837.1 hg38 chr15 30,903,904 30,943,084 39,181
ENST00000565466.5 hg38 chr15 30,903,893 30,911,271 7,379
ENST00000561594.5 hg38 chr15 30,903,852 30,911,788 7,937
ENST00000658773.1 hg38 chr15 30,903,864 30,911,212 7,349
ENST00000561594.5 hg19 chr15 31,196,055 31,203,991 7,937
ENST00000561607.6 hg19 chr15 31,196,095 31,203,843 7,749
ENST00000362065.9 hg19 chr15 31,196,118 31,235,311 39,194
ENST00000562892.2 hg19 chr15 31,196,432 31,203,168 6,737
ENST00000565466.5 hg19 chr15 31,196,096 31,203,474 7,379
ENST00000656435.1 hg19 chr15 31,196,067 31,235,288 39,222
ENST00000657391.1 hg19 chr15 31,196,067 31,234,970 38,904
ENST00000658773.1 hg19 chr15 31,196,067 31,203,415 7,349
ENST00000664837.1 hg19 chr15 31,196,107 31,235,287 39,181
ENST00000666143.1 hg19 chr15 31,196,131 31,203,202 7,072
ENST00000670849.1 hg19 chr15 31,196,089 31,235,134 39,046
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