SFTPA1 surfactant protein A1

Information
Symbol
SFTPA1
Type
protein-coding
Description
surfactant protein A1
Entrez Gene ID
653509
Genome
hg19
Position
chr10:81,370,701-81,375,211
Genome
hg38
Position
chr10:79,610,945-79,615,455
MIM
178630 OMIM
HGNC
HGNC:10798 HGNC
Ensembl
ENSG00000122852 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Benign 0 46
Likely benign 0 46
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 52
Ranking
ClinVar
0
0
26
108
10
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 COLEC4
SYNONYM ILD1
SYNONYM PSAP
SYNONYM PSP-A
SYNONYM PSPA
SYNONYM SFTP1
SYNONYM SFTPA1B
SYNONYM SP-A
SYNONYM SP-A1
SYNONYM SP-A1 beta
SYNONYM SP-A1 delta
SYNONYM SP-A1 epsilon
SYNONYM SP-A1 gamma
SYNONYM SPA
SYNONYM SPA1
MIM 178630 OMIM
HGNC HGNC:10798 HGNC
Ensembl ENSG00000122852 Ensembl
AllianceGenome HGNC:10798
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000398636.8 hg38 chr10 79,610,939 79,615,443 4,505
ENST00000428376.6 hg38 chr10 79,610,939 79,615,440 4,502
ENST00000419470.6 hg38 chr10 79,610,945 79,615,455 4,511
ENST00000428376.6 hg19 chr10 81,370,695 81,375,196 4,502
ENST00000398636.8 hg19 chr10 81,370,695 81,375,199 4,505
ENST00000419470.6 hg19 chr10 81,370,701 81,375,211 4,511
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