SFTA3 surfactant associated 3

Information
Symbol
SFTA3
Type
ncRNA
Description
surfactant associated 3
Entrez Gene ID
253970
Genome
hg19
Position
chr14:36,942,493-36,990,354
Genome
hg38
Position
chr14:36,473,288-36,521,149
MIM
617860 OMIM
HGNC
HGNC:18387 HGNC
Ensembl
ENSG00000257520 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 9 148
Likely pathogenic 1 100
Benign 2 40
Likely benign 0 134
Conflicting classifications of pathogenicity 0 24
not provided 8 0
Uncertain significance 0 190
Ranking
ClinVar
0
0
78
490
14
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 NANCI
SYNONYM PAHRF
SYNONYM SFTPH
SYNONYM SP-H
SYNONYM SPH
MIM 617860 OMIM
HGNC HGNC:18387 HGNC
Ensembl ENSG00000257520 Ensembl
AllianceGenome HGNC:18387
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000546983.2 hg38 chr14 36,473,288 36,521,149 47,862
ENST00000546983.2 hg19 chr14 36,942,493 36,990,354 47,862
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