SFTPC surfactant protein C

Information
Symbol
SFTPC
Type
protein-coding
Description
surfactant protein C
Entrez Gene ID
6440
Genome
hg19
Position
chr8:22,019,168-22,021,989
Genome
hg38
Position
chr8:22,161,655-22,164,476
MIM
178620 OMIM
HGNC
HGNC:10802 HGNC
Ensembl
ENSG00000168484 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 24
Likely pathogenic 0 22
Benign 8 70
Likely benign 0 62
Conflicting classifications of pathogenicity 0 22
Likely risk allele 0 6
Uncertain significance 0 112
Ranking
ClinVar
0
0
46
208
18
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 BRICD6
SYNONYM PSP-C
SYNONYM SFTP2
SYNONYM SMDP2
SYNONYM SP-C
SYNONYM SP5
MIM 178620 OMIM
HGNC HGNC:10802 HGNC
Ensembl ENSG00000168484 Ensembl
AllianceGenome HGNC:10802
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000524255.5 hg38 chr8 22,161,807 22,164,479 2,673
ENST00000679463.1 hg38 chr8 22,161,798 22,164,479 2,682
ENST00000437090.6 hg38 chr8 22,161,798 22,164,076 2,279
ENST00000318561.7 hg38 chr8 22,161,655 22,164,476 2,822
ENST00000522109.5 hg38 chr8 22,161,805 22,164,008 2,204
ENST00000521315.5 hg38 chr8 22,161,797 22,164,479 2,683
ENST00000520605.5 hg38 chr8 22,161,800 22,164,479 2,680
ENST00000318561.7 hg19 chr8 22,019,168 22,021,989 2,822
ENST00000521315.5 hg19 chr8 22,019,310 22,021,992 2,683
ENST00000437090.6 hg19 chr8 22,019,311 22,021,589 2,279
ENST00000679463.1 hg19 chr8 22,019,311 22,021,992 2,682
ENST00000520605.5 hg19 chr8 22,019,313 22,021,992 2,680
ENST00000522109.5 hg19 chr8 22,019,318 22,021,521 2,204
ENST00000524255.5 hg19 chr8 22,019,320 22,021,992 2,673
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