RFLNA refilin A

Information
Symbol
RFLNA
Type
protein-coding
Description
refilin A
Entrez Gene ID
144347
Genome
hg19
Position
chr12:124,779,639-124,800,570
Genome
hg38
Position
chr12:124,295,093-124,316,024
MIM
615927 OMIM
HGNC
HGNC:27051 HGNC
Ensembl
ENSG00000178882 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 2
Ranking
ClinVar
0
0
0
2
2
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 :
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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 CFM2
SYNONYM FAM101A
MIM 615927 OMIM
HGNC HGNC:27051 HGNC
Ensembl ENSG00000178882 Ensembl
AllianceGenome HGNC:27051
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000546355.4 hg38 chr12 124,295,093 124,316,024 20,932
ENST00000338359.4 hg38 chr12 124,311,708 124,314,623 2,916
ENST00000324038.6 hg38 chr12 124,289,164 124,316,022 26,859
ENST00000324038.6 hg19 chr12 124,773,710 124,800,568 26,859
ENST00000546355.4 hg19 chr12 124,779,639 124,800,570 20,932
ENST00000338359.4 hg19 chr12 124,796,254 124,799,169 2,916
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