SFTPB surfactant protein B

Information
Symbol
SFTPB
Type
protein-coding
Description
surfactant protein B
Entrez Gene ID
6439
Genome
hg19
Position
chr2:85,884,437-85,895,322
Genome
hg38
Position
chr2:85,657,314-85,668,199
MIM
178640 OMIM
HGNC
HGNC:10801 HGNC
Ensembl
ENSG00000168878 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 16
Benign 0 76
Likely benign 0 100
Conflicting classifications of pathogenicity 0 32
Uncertain significance 0 142
Ranking
ClinVar
0
0
76
254
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 :
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 PSP-B
SYNONYM SFTB3
SYNONYM SFTP3
SYNONYM SMDP1
SYNONYM SP-B
MIM 178640 OMIM
HGNC HGNC:10801 HGNC
Ensembl ENSG00000168878 Ensembl
AllianceGenome HGNC:10801
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000519937.7 hg38 chr2 85,657,314 85,668,199 10,886
ENST00000393822.7 hg38 chr2 85,657,318 85,668,741 11,424
ENST00000409383.6 hg38 chr2 85,658,290 85,668,741 10,452
ENST00000519937.7 hg19 chr2 85,884,437 85,895,322 10,886
ENST00000393822.7 hg19 chr2 85,884,441 85,895,864 11,424
ENST00000409383.6 hg19 chr2 85,885,413 85,895,864 10,452
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