SFTPC (surfactant protein C) - Rat Genome Database

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Gene: SFTPC (surfactant protein C) Homo sapiens
Analyze
Symbol: SFTPC
Name: surfactant protein C
RGD ID: 736728
HGNC Page HGNC:10802
Description: Enables identical protein binding activity. Predicted to be involved in respiratory gaseous exchange by respiratory system. Predicted to be located in cytoplasm. Predicted to be active in alveolar lamellar body and extracellular space. Implicated in asthma; lung disease (multiple); and respiratory syncytial virus infectious disease. Biomarker of asthma; cystic fibrosis; and lung disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BRICD6; BRICHOS domain containing 6; PSP-C; pulmonary surfactant apoprotein-2 SP-C; pulmonary surfactant-associated protein C; pulmonary surfactant-associated proteolipid SPL(Val); SFTP2; SMDP2; SP-C; SP5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38822,157,383 - 22,164,479 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl822,156,913 - 22,164,479 (+)EnsemblGRCh38hg38GRCh38
GRCh37822,014,896 - 22,021,992 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36822,075,129 - 22,077,937 (+)NCBINCBI36Build 36hg18NCBI36
Build 34822,075,112 - 22,077,928NCBI
Celera820,981,168 - 20,983,976 (+)NCBICelera
Cytogenetic Map8p21.3NCBI
HuRef820,561,488 - 20,564,296 (+)NCBIHuRef
CHM1_1822,220,843 - 22,223,651 (+)NCBICHM1_1
T2T-CHM13v2.0822,431,328 - 22,438,424 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-phenylbutyric acid  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
ATP  (ISO)
benzo[a]pyrene  (EXP)
bisphenol A  (ISO)
bleomycin A2  (ISO)
bosentan  (ISO)
carbon nanotube  (ISO)
CHIR 99021  (EXP)
chlorpyrifos  (ISO)
ciguatoxin CTX1B  (ISO)
colforsin daropate hydrochloride  (EXP)
cortisol  (EXP)
crocidolite asbestos  (ISO)
dexamethasone  (EXP)
fonofos  (EXP)
ionomycin  (ISO)
L-ascorbic acid  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
LY294002  (ISO)
mercaptopurine  (ISO)
N-ethyl-5'-carboxamidoadenosine  (ISO)
nickel atom  (ISO)
nickel subsulfide  (ISO)
nickel sulfate  (ISO)
nicotine  (ISO)
nitric oxide  (ISO)
nitrofen  (ISO)
ozone  (ISO)
paraquat  (ISO)
parathion  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
protein kinase inhibitor  (ISO)
purine-6-thiol  (ISO)
pyrrolidine dithiocarbamate  (ISO)
resveratrol  (EXP)
Ro 31-8220  (ISO)
S-nitroso-N-acetyl-D-penicillamine  (ISO)
silicon carbide  (ISO)
silicon dioxide  (EXP,ISO)
sodium chlorate  (ISO)
terbufos  (EXP)
terbutaline  (ISO)
testosterone  (EXP)
titanium dioxide  (ISO)
tubocurarine  (ISO)
UTP  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vinyl carbamate  (ISO)
vitamin D  (ISO)
wortmannin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal thorax morphology  (IAGP)
Absent bronchoalveolar surfactant-protein C  (IAGP)
Alveolar cell carcinoma  (IAGP)
Atelectasis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bradycardia  (IAGP)
Bronchial wall thickening  (IAGP)
Bronchiectasis  (IAGP)
Cardiac arrest  (IAGP)
Cirrhosis  (IAGP)
Clubbing  (IAGP)
Clubbing of fingers  (IAGP)
Cough  (IAGP)
Crackles  (IAGP)
Cyanosis  (IAGP)
Cystic pattern on pulmonary HRCT  (IAGP)
Decreased DLCO  (IAGP)
Desquamative interstitial pneumonitis  (IAGP)
Dyspnea  (IAGP)
Elevated bronchoalveolar lavage fluid neutrophil proportion  (IAGP)
Exertional dyspnea  (IAGP)
Failure to thrive  (IAGP)
Gastroesophageal reflux  (IAGP)
Global developmental delay  (IAGP)
Ground-glass opacification  (IAGP)
Honeycomb lung  (IAGP)
Hypotension  (IAGP)
Hypoxemia  (IAGP)
Increased circulating antibody level  (IAGP)
Interstitial pneumonitis  (IAGP)
Intraalveolar phospholipid accumulation  (IAGP)
Intralobular septal thickening  (IAGP)
Myopathy  (IAGP)
Nasal flaring  (IAGP)
Nonspecific interstitial pneumonia  (IAGP)
Pneumonia  (IAGP)
Premature birth  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary edema  (IAGP)
Pulmonary fibrosis  (IAGP)
Pulmonary insufficiency  (IAGP)
Recurrent pneumonia  (IAGP)
Reduced forced vital capacity  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Reticular pattern on pulmonary HRCT  (IAGP)
Sepsis  (IAGP)
Spontaneous pneumothorax  (IAGP)
Tachycardia  (IAGP)
Tachypnea  (IAGP)
Type II pneumocyte hyperplasia  (IAGP)
Usual interstitial pneumonia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Surfactant protein deficiency in familial interstitial lung disease. Amin RS, etal., J Pediatr. 2001 Jul;139(1):85-92.
2. Pneumocystis carinii pneumonia alters expression and distribution of lung collectins SP-A and SP-D. Atochina EN, etal., J Lab Clin Med. 2001 Jun;137(6):429-39.
3. Attenuated allergic airway hyperresponsiveness in C57BL/6 mice is associated with enhanced surfactant protein (SP)-D production following allergic sensitization. Atochina EN, etal., Respir Res. 2003 Dec 8;4:15. Print 2003.
4. Two novel mutations in surfactant protein-C, lung function and obstructive lung disease. Baekvad-Hansen M, etal., Respir Med. 2010 Mar;104(3):418-25. Epub 2009 Nov 11.
5. A common mutation in the surfactant protein C gene associated with lung disease. Cameron HS, etal., J Pediatr. 2005 Mar;146(3):370-5.
6. Surfactant protein levels in bronchoalveolar lavage after segmental allergen challenge in patients with asthma. Erpenbeck VJ, etal., Allergy. 2006 May;61(5):598-604.
7. Dynamic investigation of alveolar type II cell function in a long-term survival model of rat lung ischemia-reperfusion injury. Feng D, etal., Scand J Clin Lab Invest. 2010 Sep;70(5):364-73.
8. Serum surfactant protein D is increased in acute and chronic inflammation in mice. Fujita M, etal., Cytokine. 2005 Jul 7;31(1):25-33.
9. Surfactant protein C-deficient mice are susceptible to respiratory syncytial virus infection. Glasser SW, etal., Am J Physiol Lung Cell Mol Physiol. 2009 Jul;297(1):L64-72. Epub 2009 Mar 20.
10. Pneumonitis and emphysema in sp-C gene targeted mice. Glasser SW, etal., J Biol Chem. 2003 Apr 18;278(16):14291-8. Epub 2003 Jan 7.
11. Macrophage dysfunction and susceptibility to pulmonary Pseudomonas aeruginosa infection in surfactant protein C-deficient mice. Glasser SW, etal., J Immunol. 2008 Jul 1;181(1):621-8.
12. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
13. Pulmonary surfactant, lung function, and endobronchial inflammation in cystic fibrosis. Griese M, etal., Am J Respir Crit Care Med. 2004 Nov 1;170(9):1000-5. Epub 2004 Jul 21.
14. New surfactant protein C gene mutations associated with diffuse lung disease. Guillot L, etal., J Med Genet. 2009 Jul;46(7):490-4. Epub 2009 May 13.
15. Defective surfactant secretion in a mouse model of Hermansky-Pudlak syndrome. Guttentag SH, etal., Am J Respir Cell Mol Biol. 2005 Jul;33(1):14-21. Epub 2005 Mar 24.
16. Aspergillus fumigatus-induced allergic airway inflammation alters surfactant homeostasis and lung function in BALB/c mice. Haczku A, etal., Am J Respir Cell Mol Biol. 2001 Jul;25(1):45-50.
17. Effects of rSP-C surfactant on oxygenation and histology in a rat-lung-lavage model of acute lung injury. Hafner D, etal., Am J Respir Crit Care Med. 1998 Jul;158(1):270-8.
18. Comparison of rSP-C surfactant with natural and synthetic surfactants after late treatment in a rat model of the acute respiratory distress syndrome. Hafner D, etal., Br J Pharmacol. 1998 Jul;124(6):1083-90.
19. Lung epithelium is the major source of IL-33 and is regulated by IL-33-dependent and IL-33-independent mechanisms in pulmonary cryptococcosis. Heyen L, etal., Pathog Dis. 2016 Oct;74(7). pii: ftw086. doi: 10.1093/femspd/ftw086. Epub 2016 Sep 4.
20. Deficiency of SP-B reveals protective role of SP-C during oxygen lung injury. Ikegami M, etal., J Appl Physiol. 2002 Feb;92(2):519-26.
21. Increased and prolonged pulmonary fibrosis in surfactant protein C-deficient mice following intratracheal bleomycin. Lawson WE, etal., Am J Pathol. 2005 Nov;167(5):1267-77.
22. A mutation in the surfactant protein C gene associated with familial interstitial lung disease. Nogee LM, etal., N Engl J Med. 2001 Feb 22;344(8):573-9.
23. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
24. Haplotypes of surfactant protein C are associated with common paediatric lung diseases. Puthothu B, etal., Pediatr Allergy Immunol. 2006 Dec;17(8):572-7.
25. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
26. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
27. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
28. Total extracellular surfactant is increased but abnormal in a rat model of gram-negative bacterial pneumonia. Russo TA, etal., Am J Physiol Lung Cell Mol Physiol. 2002 Sep;283(3):L655-63.
29. Respiratory distress after intratracheal bleomycin: selective deficiency of surfactant proteins B and C. Savani RC, etal., Am J Physiol Lung Cell Mol Physiol. 2001 Sep;281(3):L685-96.
30. Time-dependent changes in pulmonary surfactant function and composition in acute respiratory distress syndrome due to pneumonia or aspiration. Schmidt R, etal., Respir Res. 2007 Jul 27;8:55.
31. Clinical features and genetic analysis of surfactant protein C in adult-onset familial interstitial pneumonia. Setoguchi Y, etal., Respirology. 2006 Jan;11 Suppl:S41-5.
32. [Genetic basis in chronic interstitial familial pneumopathy. Familial study of SFTPC] Somaschini M, etal., Pediatr Med Chir. 2005 May-Aug;27(3-4):103-7.
33. Overexpression of surfactant protein SP-A, SP-B, and SP-C mRNA in rat lungs with lipopolysaccharide-induced injury. Sugahara K, etal., Lab Invest. 1996 Jan;74(1):209-20.
34. [Polymorphic variants of a surfactant protein C gene in patients with chronic obstructive pulmonary disease]. Tsvetkova OA and Veselovskaia MV, Ter Arkh. 2007;79(9):65-9.
35. SFTPC Mutations are the Basis of a Significant Portion of Adult Familial Pulmonary Fibrosis in a Dutch Cohort. van Moorsel CH, etal., Am J Respir Crit Care Med. 2010 Jul 23.
36. Aberrant processing of surfactant protein C in hereditary SP-B deficiency. Vorbroker DK, etal., Am J Physiol. 1995 Apr;268(4 Pt 1):L647-56.
37. Elevated expression of surfactant proteins in newborn rats during adaptation to hyperoxia. White CW, etal., Am J Respir Cell Mol Biol. 2001 Jul;25(1):51-9.
Additional References at PubMed
PMID:1859376   PMID:2326260   PMID:2383558   PMID:2839484   PMID:3335510   PMID:3366248   PMID:3479771   PMID:5942662   PMID:7713515   PMID:8181452   PMID:11344267   PMID:11699574  
PMID:11699575   PMID:11699576   PMID:11802797   PMID:11893657   PMID:11907042   PMID:11991887   PMID:12034564   PMID:12477932   PMID:12933801   PMID:13680361   PMID:13817571   PMID:14525980  
PMID:14735158   PMID:14977415   PMID:15039969   PMID:15049696   PMID:15102713   PMID:15133475   PMID:15153097   PMID:15293602   PMID:15489334   PMID:15496605   PMID:15516475   PMID:15647591  
PMID:15778495   PMID:15927881   PMID:16042774   PMID:16449190   PMID:16613858   PMID:16630564   PMID:16631109   PMID:16709565   PMID:17005585   PMID:17051367   PMID:17264398   PMID:17586700  
PMID:17597647   PMID:17703412   PMID:18199284   PMID:18239190   PMID:18317237   PMID:18383112   PMID:18390830   PMID:18400946   PMID:18405368   PMID:18612544   PMID:18643778   PMID:19148933  
PMID:19220077   PMID:19258923   PMID:19281242   PMID:19366705   PMID:19376131   PMID:19472327   PMID:19735006   PMID:19815549   PMID:20054353   PMID:20237496   PMID:20301408   PMID:20371530  
PMID:20403820   PMID:20463293   PMID:20503287   PMID:20539253   PMID:20658481   PMID:21092132   PMID:21165348   PMID:21169555   PMID:21248320   PMID:21310059   PMID:21542803   PMID:21707890  
PMID:21828032   PMID:21873635   PMID:22458263   PMID:23406594   PMID:23505323   PMID:24099305   PMID:24623722   PMID:25416956   PMID:25657025   PMID:25782673   PMID:25891900   PMID:25910212  
PMID:26041777   PMID:26375473   PMID:26547207   PMID:26871637   PMID:27362365   PMID:27884070   PMID:28295039   PMID:28385810   PMID:28514442   PMID:29255193   PMID:29538355   PMID:29569581  
PMID:29601229   PMID:29621540   PMID:30235245   PMID:30630227   PMID:31379200   PMID:31462320   PMID:31515488   PMID:32296183   PMID:32587780   PMID:32962475   PMID:33394314   PMID:33666361  
PMID:33961781   PMID:34049951   PMID:34101541   PMID:34186035   PMID:34469722   PMID:34600418   PMID:35000306   PMID:35326463   PMID:35488463   PMID:36324278  


Genomics

Comparative Map Data
SFTPC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38822,157,383 - 22,164,479 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl822,156,913 - 22,164,479 (+)EnsemblGRCh38hg38GRCh38
GRCh37822,014,896 - 22,021,992 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36822,075,129 - 22,077,937 (+)NCBINCBI36Build 36hg18NCBI36
Build 34822,075,112 - 22,077,928NCBI
Celera820,981,168 - 20,983,976 (+)NCBICelera
Cytogenetic Map8p21.3NCBI
HuRef820,561,488 - 20,564,296 (+)NCBIHuRef
CHM1_1822,220,843 - 22,223,651 (+)NCBICHM1_1
T2T-CHM13v2.0822,431,328 - 22,438,424 (+)NCBIT2T-CHM13v2.0
Sftpc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391470,758,381 - 70,761,521 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1470,758,389 - 70,761,521 (-)EnsemblGRCm39 Ensembl
GRCm381470,520,941 - 70,524,081 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1470,520,949 - 70,524,081 (-)EnsemblGRCm38mm10GRCm38
MGSCv371470,920,748 - 70,923,888 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361469,256,020 - 69,259,150 (-)NCBIMGSCv36mm8
Celera1468,062,491 - 68,065,631 (-)NCBICelera
Cytogenetic Map14D2NCBI
cM Map1436.32NCBI
Sftpc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21545,596,565 - 45,599,615 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1545,596,574 - 45,610,777 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1549,714,437 - 49,717,379 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01550,825,943 - 50,828,885 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01547,685,234 - 47,688,176 (-)NCBIRnor_WKY
Rnor_6.01552,211,538 - 52,214,480 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1552,211,544 - 52,214,616 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01555,935,055 - 55,937,997 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41550,923,105 - 50,926,047 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11550,938,884 - 50,941,827 (-)NCBI
Celera1545,274,971 - 45,277,913 (-)NCBICelera
Cytogenetic Map15p11NCBI
Sftpc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540345,649,122 - 45,651,837 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540345,649,149 - 45,651,421 (+)NCBIChiLan1.0ChiLan1.0
SFTPC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1818,343,007 - 18,348,764 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl818,345,940 - 18,348,764 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0821,402,060 - 21,409,438 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
SFTPC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12535,088,295 - 35,090,995 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2535,088,279 - 35,091,457 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2535,677,864 - 35,680,614 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02535,299,616 - 35,302,366 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2535,299,694 - 35,302,250 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12535,245,093 - 35,247,843 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02535,099,613 - 35,102,363 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02535,255,134 - 35,257,884 (-)NCBIUU_Cfam_GSD_1.0
Sftpc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494312,588,481 - 12,596,579 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365555,979,417 - 5,982,011 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365555,966,610 - 5,982,083 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SFTPC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl146,440,309 - 6,443,095 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1146,440,309 - 6,443,104 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2146,868,096 - 6,880,564 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SFTPC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1820,229,756 - 20,233,568 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl820,230,870 - 20,234,020 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605222,002,517 - 22,009,591 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sftpc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475817,742,415 - 17,744,655 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475817,742,439 - 17,744,664 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SFTPC
81 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001317778.2(SFTPC):c.417A>C (p.Arg139Ser) single nucleotide variant not provided [RCV000518943] Chr8:22163528 [GRCh38]
Chr8:22021041 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.324+5G>A single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002323888]|not provided [RCV000523865] Chr8:22163207 [GRCh38]
Chr8:22020720 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.435+1G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014094] Chr8:22163547 [GRCh38]
Chr8:22021060 [GRCh37]
Chr8:8p21.3
pathogenic
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002415413]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014095]|not provided [RCV000731190] Chr8:22163096 [GRCh38]
Chr8:22020609 [GRCh37]
Chr8:8p21.3
pathogenic
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002336082]|Interstitial lung disease 2 [RCV000261074]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014096]|not provided [RCV002054436] Chr8:22163947 [GRCh38]
Chr8:22021460 [GRCh37]
Chr8:8p21.3
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001317778.2(SFTPC):c.545T>A (p.Leu182Gln) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014097] Chr8:22164010 [GRCh38]
Chr8:22021523 [GRCh37]
Chr8:8p21.3
pathogenic
NM_001317778.2(SFTPC):c.435+1G>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014098] Chr8:22163547 [GRCh38]
Chr8:22021060 [GRCh37]
Chr8:8p21.3
pathogenic
NM_001317778.2(SFTPC):c.347C>A (p.Ala116Asp) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014099] Chr8:22163458 [GRCh38]
Chr8:22020971 [GRCh37]
Chr8:8p21.3
pathogenic
NM_001317778.2(SFTPC):c.196G>A (p.Glu66Lys) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014100] Chr8:22162727 [GRCh38]
Chr8:22020240 [GRCh37]
Chr8:8p21.3
pathogenic
NM_001317778.2(SFTPC):c.563T>C (p.Leu188Pro) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014101] Chr8:22164028 [GRCh38]
Chr8:22021541 [GRCh37]
Chr8:8p21.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3 copy number gain See cases [RCV000053636] Chr8:21654619..23001935 [GRCh38]
Chr8:21512131..22859448 [GRCh37]
Chr8:21556411..22915393 [NCBI36]
Chr8:8p21.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p21.3(chr8:21482945-22853239)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]|See cases [RCV000054236] Chr8:21482945..22853239 [GRCh38]
Chr8:21340456..22710752 [GRCh37]
Chr8:21384736..22766697 [NCBI36]
Chr8:8p21.3
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_003018.3:c.435_436insGT insertion Surfactant metabolism dysfunction, pulmonary, 2 [RCV001294092]   pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002326871]|Interstitial lung disease 2 [RCV000387624]|Osteogenesis Imperfecta, Recessive [RCV000311252]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000289134]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001160261]|not provided [RCV001618306]|not specified [RCV000151856] Chr8:22163524 [GRCh38]
Chr8:22021037 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_001317778.2(SFTPC):c.436-26C>G single nucleotide variant Interstitial lung disease 2 [RCV000344147]|Osteogenesis Imperfecta, Recessive [RCV000352001]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000390443]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001160262]|not provided [RCV001682868]|not specified [RCV000151857] Chr8:22163875 [GRCh38]
Chr8:22021388 [GRCh37]
Chr8:8p21.3
benign
NM_001317778.2(SFTPC):c.539G>A (p.Ser180Asn) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002345476]|Interstitial lung disease 2 [RCV000277733]|Osteogenesis Imperfecta, Recessive [RCV000401939]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000367594]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001163945]|not provided [RCV001682869]|not specified [RCV000151858] Chr8:22164004 [GRCh38]
Chr8:22021517 [GRCh37]
Chr8:8p21.3
benign
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12
pathogenic
NM_001317778.2(SFTPC):c.201+14G>A single nucleotide variant Interstitial lung disease 2 [RCV000358246]|Osteogenesis Imperfecta, Recessive [RCV000407806]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000303558]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001163844]|not provided [RCV001682867]|not specified [RCV000151855] Chr8:22162746 [GRCh38]
Chr8:22020259 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_001317778.2(SFTPC):c.115G>A (p.Val39Met) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 2 [RCV002282063]|not provided [RCV000224142] Chr8:22162646 [GRCh38]
Chr8:22020159 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002372211]|Interstitial lung disease 2 [RCV000315399]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000490496] Chr8:22162646 [GRCh38]
Chr8:22020159 [GRCh37]
Chr8:8p21.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001317778.2(SFTPC):c.176A>G (p.His59Arg) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002402077]|Interstitial lung disease 2 [RCV000366166]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000271807]|not specified [RCV002248629] Chr8:22162707 [GRCh38]
Chr8:22020220 [GRCh37]
Chr8:8p21.3
benign|likely benign|uncertain significance
NM_001317778.2(SFTPC):c.*12T>A single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002446618]|Interstitial lung disease 2 [RCV000329388]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000288374]|not specified [RCV000430447] Chr8:22164053 [GRCh38]
Chr8:22021566 [GRCh37]
Chr8:8p21.3
benign|likely benign|uncertain significance
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro) single nucleotide variant Interstitial lung disease 2 [RCV000391181]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000305466]|not provided [RCV001358404]|not specified [RCV002248630] Chr8:22163910 [GRCh38]
Chr8:22021423 [GRCh37]
Chr8:8p21.3
benign|likely benign|uncertain significance
NM_003018.3(SFTPC):c.-91C>T single nucleotide variant Interstitial lung disease 2 [RCV000326931]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000363097] Chr8:22161738 [GRCh38]
Chr8:22019251 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_001317778.2(SFTPC):c.43-7G>A single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002328880]|Interstitial lung disease 2 [RCV000400766]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000350319]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001007607]|not provided [RCV000968120]|not specified [RCV000732367] Chr8:22162567 [GRCh38]
Chr8:22020080 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_001317778.2(SFTPC):c.142G>A (p.Val48Met) single nucleotide variant Interstitial lung disease 2 [RCV000407976]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000306866] Chr8:22162673 [GRCh38]
Chr8:22020186 [GRCh37]
Chr8:8p21.3
likely benign
NM_003018.3(SFTPC):c.-67C>T single nucleotide variant Interstitial lung disease 2 [RCV000328318]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000273172] Chr8:22161762 [GRCh38]
Chr8:22019275 [GRCh37]
Chr8:8p21.3
likely benign
NM_001317778.2(SFTPC):c.436-15G>A single nucleotide variant Interstitial lung disease 2 [RCV000309075]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000340385] Chr8:22163886 [GRCh38]
Chr8:22021399 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.351T>G (p.Pro117=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002450934]|Interstitial lung disease 2 [RCV000292229]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000351790]|not provided [RCV000905522] Chr8:22163462 [GRCh38]
Chr8:22020975 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_001317778.2(SFTPC):c.552C>T (p.Gly184=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002348114]|Interstitial lung disease 2 [RCV000332742]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000382771] Chr8:22164017 [GRCh38]
Chr8:22021530 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_003018.3(SFTPC):c.-92C>G single nucleotide variant Interstitial lung disease 2 [RCV000276609]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000370990] Chr8:22161737 [GRCh38]
Chr8:22019250 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002348113]|Interstitial lung disease 2 [RCV000262185]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000331564]|not provided [RCV001431879] Chr8:22163988 [GRCh38]
Chr8:22021501 [GRCh37]
Chr8:8p21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001317778.2(SFTPC):c.228G>C (p.Pro76=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002446617]|Interstitial lung disease 2 [RCV000263116]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000371705]|not provided [RCV000960901] Chr8:22163106 [GRCh38]
Chr8:22020619 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_001317778.2(SFTPC):c.505G>A (p.Gly169Arg) single nucleotide variant Interstitial lung disease 2 [RCV000297514]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000356991] Chr8:22163970 [GRCh38]
Chr8:22021483 [GRCh37]
Chr8:8p21.3
uncertain significance
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_001317778.2(SFTPC):c.228G>A (p.Pro76=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002446616]|Interstitial lung disease 2 [RCV000268278]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000317122] Chr8:22163106 [GRCh38]
Chr8:22020619 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_001317778.2(SFTPC):c.42G>A (p.Pro14=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002328879]|Interstitial lung disease 2 [RCV000375927]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000281315]|not provided [RCV002058716] Chr8:22161870 [GRCh38]
Chr8:22019383 [GRCh37]
Chr8:8p21.3
benign|likely benign|uncertain significance
NM_001317778.2(SFTPC):c.18+13G>A single nucleotide variant Interstitial lung disease 2 [RCV000340179]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000401749] Chr8:22164072 [GRCh38]
Chr8:22021585 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_001317778.2(SFTPC):c.288C>T (p.Ile96=) single nucleotide variant Interstitial lung disease 2 [RCV000386911]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000318335]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001158925]|not provided [RCV000898546] Chr8:22163166 [GRCh38]
Chr8:22020679 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_001317778.2(SFTPC):c.18+12G>A single nucleotide variant Interstitial lung disease 2 [RCV000282848]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000383994] Chr8:22164071 [GRCh38]
Chr8:22021584 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_003018.3(SFTPC):c.-56_-55dup duplication Interstitial lung disease 2 [RCV000263966]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000378296] Chr8:22161772..22161773 [GRCh38]
Chr8:22019285..22019286 [GRCh37]
Chr8:8p21.3
likely benign
NM_003018.3(SFTPC):c.-134G>C single nucleotide variant Interstitial lung disease 2 [RCV000392960]|Osteogenesis Imperfecta, Recessive [RCV000346624]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000311642]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001158818]|not provided [RCV001653736] Chr8:22161695 [GRCh38]
Chr8:22019208 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_001317778.2(SFTPC):c.*193C>A single nucleotide variant Interstitial lung disease 2 [RCV000378056]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000320881] Chr8:22164440 [GRCh38]
Chr8:22021953 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.24C>G (p.Val8=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002429328]|Interstitial lung disease 2 [RCV000335310]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000280365]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000856674]|not provided [RCV000906537] Chr8:22161852 [GRCh38]
Chr8:22019365 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_006129.4(BMP1):c.-170A>G single nucleotide variant Interstitial lung disease 2 [RCV000325246]|Osteogenesis Imperfecta, Recessive [RCV000324647]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000384450]|not provided [RCV000834044] Chr8:22165236 [GRCh38]
Chr8:22022749 [GRCh37]
Chr8:8p21.3
benign
Single allele variation Osteogenesis Imperfecta, Recessive [RCV000358666] Chr8:22021933..22021934 [GRCh37] likely benign
NM_001317778.2(SFTPC):c.-26GAG[1] microsatellite Interstitial lung disease 2 [RCV000379517]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000323776] Chr8:22161803..22161805 [GRCh38]
Chr8:22019316..22019318 [GRCh37]
Chr8:8p21.3
uncertain significance
Single allele variation Osteogenesis Imperfecta, Recessive [RCV000299240] Chr8:22021933..22021934 [GRCh37] benign
NM_001317778.2(SFTPC):c.*123G>A single nucleotide variant Interstitial lung disease 2 [RCV000301511]|Osteogenesis Imperfecta, Recessive [RCV000353332]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000398642]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001159016] Chr8:22164370 [GRCh38]
Chr8:22021883 [GRCh37]
Chr8:8p21.3
benign
NM_001317778.2(SFTPC):c.555G>A (p.Glu185=) single nucleotide variant not provided [RCV000596064] Chr8:22164020 [GRCh38]
Chr8:22021533 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.163C>T (p.Leu55Phe) single nucleotide variant Myopathy [RCV000735344] Chr8:22162694 [GRCh38]
Chr8:22020207 [GRCh37]
Chr8:8p21.3
likely pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p21.3(chr8:21521340-22492009)x4 copy number gain See cases [RCV000510404] Chr8:21521340..22492009 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001317778.2(SFTPC):c.201+3G>A single nucleotide variant not specified [RCV000608704] Chr8:22162735 [GRCh38]
Chr8:22020248 [GRCh37]
Chr8:8p21.3
likely benign
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autism [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_001317778.2(SFTPC):c.397A>C (p.Ser133Arg) single nucleotide variant Inborn genetic diseases [RCV000622406] Chr8:22163508 [GRCh38]
Chr8:22021021 [GRCh37]
Chr8:8p21.3
likely pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001317778.2(SFTPC):c.*173C>T single nucleotide variant Interstitial lung disease 2 [RCV000326755]|Osteogenesis Imperfecta, Recessive [RCV000262820]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000269681]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001160357] Chr8:22164420 [GRCh38]
Chr8:22021933 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_001317778.2(SFTPC):c.*174G>A single nucleotide variant Interstitial lung disease 2 [RCV000272766]|Osteogenesis Imperfecta, Recessive [RCV000264445]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000314169]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001160358] Chr8:22164421 [GRCh38]
Chr8:22021934 [GRCh37]
Chr8:8p21.3
benign
NM_006129.4(BMP1):c.-277delG deletion Interstitial lung disease 2 [RCV000270335]|Osteogenesis Imperfecta, Recessive [RCV000324315]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000378818]|not provided [RCV001692089] Chr8:22165129 [GRCh38]
Chr8:22022642 [GRCh37]
Chr8:8p21.3
benign
NM_006129.5(BMP1):c.-15C>G single nucleotide variant Interstitial lung disease 2 [RCV000295154]|Osteogenesis Imperfecta, Recessive [RCV000279542]|Osteogenesis imperfecta type 13 [RCV001162016]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000389548]|not specified [RCV000613710] Chr8:22165391 [GRCh38]
Chr8:22022904 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_001317778.2(SFTPC):c.*36A>G single nucleotide variant Interstitial lung disease 2 [RCV000286310]|Osteogenesis Imperfecta, Recessive [RCV000298420]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000336558]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001159015] Chr8:22164283 [GRCh38]
Chr8:22021796 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_006129.4(BMP1):c.-126G>A single nucleotide variant Interstitial lung disease 2 [RCV000349827]|Osteogenesis Imperfecta, Recessive [RCV000372244]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000290157] Chr8:22165280 [GRCh38]
Chr8:22022793 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001317778.2(SFTPC):c.43-194G>A single nucleotide variant not provided [RCV001648868] Chr8:22162380 [GRCh38]
Chr8:22019893 [GRCh37]
Chr8:8p21.3
benign
NM_001317778.2(SFTPC):c.435+148C>T single nucleotide variant not provided [RCV001681890] Chr8:22163694 [GRCh38]
Chr8:22021207 [GRCh37]
Chr8:8p21.3
benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_001317778.2(SFTPC):c.316T>C (p.Tyr106His) single nucleotide variant Interstitial lung disease 2 [RCV000988043] Chr8:22163194 [GRCh38]
Chr8:22020707 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_001317778.2(SFTPC):c.42+35G>A single nucleotide variant not provided [RCV001679912] Chr8:22161905 [GRCh38]
Chr8:22019418 [GRCh37]
Chr8:8p21.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001317778.2(SFTPC):c.42+14C>T single nucleotide variant not specified [RCV000825822] Chr8:22161884 [GRCh38]
Chr8:22019397 [GRCh37]
Chr8:8p21.3
likely benign
GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3 copy number gain not provided [RCV000847279] Chr8:20564910..22629124 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3(chr8:21077580-22144930)x1 copy number loss not provided [RCV000846265] Chr8:21077580..22144930 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3(chr8:21717395-22395625)x3 copy number gain not provided [RCV000846113] Chr8:21717395..22395625 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1 copy number loss not provided [RCV000849161] Chr8:21662847..24199218 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
GRCh37/hg19 8p21.3(chr8:21840451-22037635)x3 copy number gain not provided [RCV000846785] Chr8:21840451..22037635 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.436-125C>T single nucleotide variant not provided [RCV001641817] Chr8:22163776 [GRCh38]
Chr8:22021289 [GRCh37]
Chr8:8p21.3
benign
NM_001317778.2(SFTPC):c.42+37G>A single nucleotide variant not provided [RCV001689317] Chr8:22161907 [GRCh38]
Chr8:22019420 [GRCh37]
Chr8:8p21.3
benign
NM_001317778.2(SFTPC):c.43-247A>G single nucleotide variant not provided [RCV001694004] Chr8:22162327 [GRCh38]
Chr8:22019840 [GRCh37]
Chr8:8p21.3
benign
NM_001385654.1(SFTPC):c.-53-218G>A single nucleotide variant not provided [RCV001595625] Chr8:22161558 [GRCh38]
Chr8:22019071 [GRCh37]
Chr8:8p21.3
benign
NM_001317778.2(SFTPC):c.410T>A (p.Leu137His) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 2 [RCV000855403] Chr8:22163521 [GRCh38]
Chr8:22021034 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001317778.2(SFTPC):c.*186G>A single nucleotide variant Interstitial lung disease 2 [RCV001160359]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001160360] Chr8:22164433 [GRCh38]
Chr8:22021946 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.43-275G>A single nucleotide variant not provided [RCV001689144] Chr8:22162299 [GRCh38]
Chr8:22019812 [GRCh37]
Chr8:8p21.3
benign
NM_001317778.2(SFTPC):c.43-87C>T single nucleotide variant not provided [RCV001715853] Chr8:22162487 [GRCh38]
Chr8:22020000 [GRCh37]
Chr8:8p21.3
benign
NM_001317778.2(SFTPC):c.201+108A>G single nucleotide variant not provided [RCV001589356] Chr8:22162840 [GRCh38]
Chr8:22020353 [GRCh37]
Chr8:8p21.3
likely benign
NM_001317778.2(SFTPC):c.201+49C>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 2 [RCV001807510]|not provided [RCV001688605] Chr8:22162781 [GRCh38]
Chr8:22020294 [GRCh37]
Chr8:8p21.3
benign
NM_001317778.2(SFTPC):c.43-21T>C single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 2 [RCV001807504]|not provided [RCV001686798] Chr8:22162553 [GRCh38]
Chr8:22020066 [GRCh37]
Chr8:8p21.3
benign
NM_001317778.2(SFTPC):c.68G>A (p.Arg23Gln) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002375045]|Interstitial lung disease 2 [RCV001163544]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001160162] Chr8:22162599 [GRCh38]
Chr8:22020112 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_001317778.2(SFTPC):c.303C>T (p.Leu101=) single nucleotide variant Interstitial lung disease 2 [RCV001158927]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001158926] Chr8:22163181 [GRCh38]
Chr8:22020694 [GRCh37]
Chr8:8p21.3
benign
NM_001317778.2(SFTPC):c.*171G>A single nucleotide variant Interstitial lung disease 2 [RCV001159017]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001159018] Chr8:22164418 [GRCh38]
Chr8:22021931 [GRCh37]
Chr8:8p21.3
likely benign
NM_001317778.2(SFTPC):c.237G>A (p.Gln79=) single nucleotide variant Interstitial lung disease 2 [RCV001158923]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001158924] Chr8:22163115 [GRCh38]
Chr8:22020628 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.*19-39dup duplication Surfactant metabolism dysfunction, pulmonary, 2 [RCV001807502]|not provided [RCV001681518] Chr8:22164226..22164227 [GRCh38]
Chr8:22021739..22021740 [GRCh37]
Chr8:8p21.3
benign
NM_001317778.2(SFTPC):c.445G>T (p.Ala149Ser) single nucleotide variant Interstitial lung disease 2 [RCV001163632]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001163633] Chr8:22163910 [GRCh38]
Chr8:22021423 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.10G>A (p.Gly4Ser) single nucleotide variant Neonatal acute respiratory distress due to SP-B deficiency [RCV001248771] Chr8:22161838 [GRCh38]
Chr8:22019351 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_001317778.2(SFTPC):c.548G>A (p.Cys183Tyr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002348853]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001257121] Chr8:22164013 [GRCh38]
Chr8:22021526 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic|uncertain significance
NM_001317778.2(SFTPC):c.574T>C (p.Ter192Gln) single nucleotide variant not provided [RCV001344035] Chr8:22164039 [GRCh38]
Chr8:22021552 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.444del (p.Ala149fs) deletion Surfactant metabolism dysfunction, pulmonary, 2 [RCV001375872] Chr8:22163907 [GRCh38]
Chr8:22021420 [GRCh37]
Chr8:8p21.3
likely pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
NM_001317778.2(SFTPC):c.435+71G>A single nucleotide variant not provided [RCV001655056] Chr8:22163617 [GRCh38]
Chr8:22021130 [GRCh37]
Chr8:8p21.3
benign
NM_001317778.2(SFTPC):c.158_190dup (p.Lys63_His64insProLeuLeuMetGlyLeuHisMetSerGlnLys) duplication Surfactant metabolism dysfunction, pulmonary, 2 [RCV001804237] Chr8:22162688..22162689 [GRCh38]
Chr8:22020201..22020202 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.314A>T (p.Asp105Val) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 2 [RCV001808056] Chr8:22163192 [GRCh38]
Chr8:22020705 [GRCh37]
Chr8:8p21.3
likely pathogenic
NC_000008.10:g.(?_21900440)_(23564111_?)dup duplication not provided [RCV001928022] Chr8:21900440..23564111 [GRCh37]
Chr8:8p21.3-21.2
uncertain significance
GRCh37/hg19 8p21.3(chr8:21303187-22230498) copy number gain not specified [RCV002053755] Chr8:21303187..22230498 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.553G>A (p.Glu185Lys) single nucleotide variant not provided [RCV001898005] Chr8:22164018 [GRCh38]
Chr8:22021531 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.435+2T>C single nucleotide variant not provided [RCV001981011] Chr8:22163548 [GRCh38]
Chr8:22021061 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_001317778.2(SFTPC):c.202G>T (p.Val68Phe) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002423012]|not provided [RCV001906643] Chr8:22163080 [GRCh38]
Chr8:22020593 [GRCh37]
Chr8:8p21.3
likely pathogenic|uncertain significance
NM_001317778.2(SFTPC):c.334G>A (p.Ala112Thr) single nucleotide variant not specified [RCV002248190] Chr8:22163445 [GRCh38]
Chr8:22020958 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.42+17G>A single nucleotide variant not provided [RCV002089508] Chr8:22161887 [GRCh38]
Chr8:22019400 [GRCh37]
Chr8:8p21.3
likely benign
NM_001317778.2(SFTPC):c.318C>A (p.Tyr106Ter) single nucleotide variant not specified [RCV002248189] Chr8:22163196 [GRCh38]
Chr8:22020709 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4 copy number gain not provided [RCV002279745] Chr8:19779604..26531980 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
NM_001317778.2(SFTPC):c.192C>G (p.His64Gln) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 2 [RCV002276254] Chr8:22162723 [GRCh38]
Chr8:22020236 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_001317778.2(SFTPC):c.337T>C (p.Tyr113His) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002451823] Chr8:22163448 [GRCh38]
Chr8:22020961 [GRCh37]
Chr8:8p21.3
likely pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12
pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
NM_001317778.2(SFTPC):c.527G>A (p.Gly176Asp) single nucleotide variant not provided [RCV002287161] Chr8:22163992 [GRCh38]
Chr8:22021505 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.195G>A (p.Thr65_Glu66=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002421707] Chr8:22162726 [GRCh38]
Chr8:22020239 [GRCh37]
Chr8:8p21.3
likely benign
NM_001317778.2(SFTPC):c.187A>G (p.Lys63Glu) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 2 [RCV002283993] Chr8:22162718 [GRCh38]
Chr8:22020231 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.62G>A (p.Arg21Gln) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002368782] Chr8:22162593 [GRCh38]
Chr8:22020106 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.264G>A (p.Leu88_Val89=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002453051] Chr8:22163142 [GRCh38]
Chr8:22020655 [GRCh37]
Chr8:8p21.3
likely benign
NM_001317778.2(SFTPC):c.329T>C (p.Leu110Pro) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002454674] Chr8:22163440 [GRCh38]
Chr8:22020953 [GRCh37]
Chr8:8p21.3
pathogenic
NM_001317778.2(SFTPC):c.181A>G (p.Ser61Gly) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002410321] Chr8:22162712 [GRCh38]
Chr8:22020225 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.351T>C (p.Pro117_Gly118=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002459318] Chr8:22163462 [GRCh38]
Chr8:22020975 [GRCh37]
Chr8:8p21.3
likely benign
NM_001317778.2(SFTPC):c.436-9T>G single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002328425] Chr8:22163892 [GRCh38]
Chr8:22021405 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.380C>G (p.Ala127Gly) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002355226] Chr8:22163491 [GRCh38]
Chr8:22021004 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.144G>A (p.Val48_Val49=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002394562] Chr8:22162675 [GRCh38]
Chr8:22020188 [GRCh37]
Chr8:8p21.3
likely benign
NM_001317778.2(SFTPC):c.334G>C (p.Ala112Pro) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002320976] Chr8:22163445 [GRCh38]
Chr8:22020958 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_001317778.2(SFTPC):c.39G>A (p.Pro13_Pro14=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002321164] Chr8:22161867 [GRCh38]
Chr8:22019380 [GRCh37]
Chr8:8p21.3
likely benign
NM_001317778.2(SFTPC):c.362G>C (p.Cys121Ser) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002460330] Chr8:22163473 [GRCh38]
Chr8:22020986 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.516G>A (p.Pro172_Ala173=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002346954] Chr8:22163981 [GRCh38]
Chr8:22021494 [GRCh37]
Chr8:8p21.3
likely benign
NM_001317778.2(SFTPC):c.88C>T (p.Pro30Ser) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002376051] Chr8:22162619 [GRCh38]
Chr8:22020132 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.414T>A (p.Thr138_Arg139=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002333230] Chr8:22163525 [GRCh38]
Chr8:22021038 [GRCh37]
Chr8:8p21.3
likely benign
NM_001317778.2(SFTPC):c.310T>C (p.Tyr104His) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002326082] Chr8:22163188 [GRCh38]
Chr8:22020701 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.242G>A (p.Arg81His) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002450454] Chr8:22163120 [GRCh38]
Chr8:22020633 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.476_477del (p.Glu159fs) microsatellite Hereditary pulmonary alveolar proteinosis [RCV002342683] Chr8:22163939..22163940 [GRCh38]
Chr8:22021452..22021453 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_001317778.2(SFTPC):c.141C>T (p.Val47_Val48=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002391782] Chr8:22162672 [GRCh38]
Chr8:22020185 [GRCh37]
Chr8:8p21.3
likely benign
NM_001317778.2(SFTPC):c.435G>A (p.Gln145_Ala146=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002332336] Chr8:22163546 [GRCh38]
Chr8:22021059 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_001317778.2(SFTPC):c.94C>T (p.His32Tyr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002374126] Chr8:22162625 [GRCh38]
Chr8:22020138 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.480dup (p.Arg161fs) duplication Hereditary pulmonary alveolar proteinosis [RCV002342936] Chr8:22163941..22163942 [GRCh38]
Chr8:22021454..22021455 [GRCh37]
Chr8:8p21.3
pathogenic
NM_001317778.2(SFTPC):c.413_430delinsAGGTGATC (p.Thr138fs) indel Hereditary pulmonary alveolar proteinosis [RCV002333061] Chr8:22163524..22163541 [GRCh38]
Chr8:22021037..22021054 [GRCh37]
Chr8:8p21.3
pathogenic
NM_001317778.2(SFTPC):c.95A>T (p.His32Leu) single nucleotide variant not provided [RCV002298223] Chr8:22162626 [GRCh38]
Chr8:22020139 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.571A>C (p.Ile191Leu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002353616] Chr8:22164036 [GRCh38]
Chr8:22021549 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr) single nucleotide variant Interstitial lung disease 2 [RCV001163546]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001163545]|not provided [RCV001797157] Chr8:22162688 [GRCh38]
Chr8:22020201 [GRCh37]
Chr8:8p21.3
benign|conflicting interpretations of pathogenicity|uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4111
Count of miRNA genes:998
Interacting mature miRNAs:1243
Transcripts:ENST00000318561, ENST00000437090, ENST00000518615, ENST00000520605, ENST00000521315, ENST00000522109, ENST00000522630, ENST00000522880, ENST00000523296, ENST00000524255, ENST00000524318, ENST00000524350
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
G62003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,021,821 - 22,021,976UniSTSGRCh37
Build 36822,077,766 - 22,077,921RGDNCBI36
Celera820,983,805 - 20,983,960RGD
Cytogenetic Map8p21UniSTS
Cytogenetic Map8p21.3UniSTS
HuRef820,564,125 - 20,564,280UniSTS
SFTPC  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,021,824 - 22,021,977UniSTSGRCh37
Build 36822,077,769 - 22,077,922RGDNCBI36
Celera820,983,808 - 20,983,961RGD
HuRef820,564,128 - 20,564,281UniSTS
RH78298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,020,975 - 22,021,449UniSTSGRCh37
Build 36822,076,920 - 22,077,394RGDNCBI36
Celera820,982,959 - 20,983,433RGD
Cytogenetic Map8p21UniSTS
Cytogenetic Map8p21.3UniSTS
HuRef820,563,279 - 20,563,753UniSTS
GeneMap99-GB4 RH Map889.32UniSTS
NCBI RH Map8265.7UniSTS
WIAF-1622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,021,428 - 22,021,564UniSTSGRCh37
Build 36822,077,373 - 22,077,509RGDNCBI36
Celera820,983,412 - 20,983,548RGD
Cytogenetic Map8p21UniSTS
Cytogenetic Map8p21.3UniSTS
HuRef820,563,732 - 20,563,868UniSTS
GeneMap99-GB4 RH Map889.22UniSTS
NCBI RH Map8278.4UniSTS
RH66510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,021,529 - 22,021,976UniSTSGRCh37
Build 36822,077,474 - 22,077,921RGDNCBI36
Celera820,983,513 - 20,983,960RGD
Cytogenetic Map8p21UniSTS
Cytogenetic Map8p21.3UniSTS
HuRef820,563,833 - 20,564,280UniSTS
GeneMap99-GB4 RH Map891.06UniSTS
NCBI RH Map8277.5UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage pharyngeal arch
High 1 352
Medium 9 23 21 2 13 2 23 8 60 2 307 6 16
Low 642 859 867 71 274 34 2107 589 3082 20 602 692 37 295 1416 1
Below cutoff 1491 1822 555 284 778 179 1777 1365 494 128 550 87 108 752 1209

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC105206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY090568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY337315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY357924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF433929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG535994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG569816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI490051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI524154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM993053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ027183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS123922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB537043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ884411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L40486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ826316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U02948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318561   ⟹   ENSP00000316152
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl822,161,655 - 22,164,476 (+)Ensembl
RefSeq Acc Id: ENST00000437090   ⟹   ENSP00000407931
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl822,161,798 - 22,164,076 (+)Ensembl
RefSeq Acc Id: ENST00000518615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl822,161,809 - 22,163,235 (+)Ensembl
RefSeq Acc Id: ENST00000520605   ⟹   ENSP00000430266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl822,161,800 - 22,164,479 (+)Ensembl
RefSeq Acc Id: ENST00000521315   ⟹   ENSP00000430410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl822,161,797 - 22,164,479 (+)Ensembl
RefSeq Acc Id: ENST00000522109   ⟹   ENSP00000429496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl822,161,805 - 22,164,008 (+)Ensembl
RefSeq Acc Id: ENST00000522630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl822,163,080 - 22,163,539 (+)Ensembl
RefSeq Acc Id: ENST00000522880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl822,156,913 - 22,159,711 (+)Ensembl
RefSeq Acc Id: ENST00000523296   ⟹   ENSP00000429619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl822,161,808 - 22,163,998 (+)Ensembl
RefSeq Acc Id: ENST00000524255   ⟹   ENSP00000429552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl822,161,807 - 22,164,479 (+)Ensembl
RefSeq Acc Id: ENST00000524318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl822,158,724 - 22,162,732 (+)Ensembl
RefSeq Acc Id: ENST00000524350
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl822,158,613 - 22,159,799 (+)Ensembl
RefSeq Acc Id: ENST00000679463   ⟹   ENSP00000505152
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl822,161,798 - 22,164,479 (+)Ensembl
RefSeq Acc Id: NM_001172357   ⟹   NP_001165828
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,161,798 - 22,164,479 (+)NCBI
GRCh37822,014,853 - 22,021,992 (+)NCBI
HuRef820,561,488 - 20,564,296 (+)ENTREZGENE
CHM1_1822,220,843 - 22,223,651 (+)NCBI
T2T-CHM13v2.0822,435,743 - 22,438,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001172410   ⟹   NP_001165881
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,161,798 - 22,164,479 (+)NCBI
GRCh37822,014,853 - 22,021,992 (+)NCBI
HuRef820,561,488 - 20,564,296 (+)ENTREZGENE
CHM1_1822,220,843 - 22,223,651 (+)NCBI
T2T-CHM13v2.0822,435,743 - 22,438,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001317778   ⟹   NP_001304707
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,161,798 - 22,164,479 (+)NCBI
CHM1_1822,220,843 - 22,223,651 (+)NCBI
T2T-CHM13v2.0822,435,743 - 22,438,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001317779   ⟹   NP_001304708
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,161,798 - 22,164,479 (+)NCBI
CHM1_1822,220,843 - 22,223,651 (+)NCBI
T2T-CHM13v2.0822,435,743 - 22,438,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001317780   ⟹   NP_001304709
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,161,798 - 22,164,479 (+)NCBI
CHM1_1822,220,843 - 22,223,651 (+)NCBI
T2T-CHM13v2.0822,435,743 - 22,438,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385653   ⟹   NP_001372582
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,161,798 - 22,164,479 (+)NCBI
T2T-CHM13v2.0822,435,743 - 22,438,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385654   ⟹   NP_001372583
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,157,383 - 22,164,479 (+)NCBI
T2T-CHM13v2.0822,431,328 - 22,438,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385655   ⟹   NP_001372584
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,157,383 - 22,164,479 (+)NCBI
T2T-CHM13v2.0822,431,328 - 22,438,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385656   ⟹   NP_001372585
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,157,383 - 22,164,479 (+)NCBI
T2T-CHM13v2.0822,431,328 - 22,438,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385657   ⟹   NP_001372586
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,157,383 - 22,164,479 (+)NCBI
T2T-CHM13v2.0822,431,328 - 22,438,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385658   ⟹   NP_001372587
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,157,383 - 22,164,479 (+)NCBI
T2T-CHM13v2.0822,431,328 - 22,438,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385659   ⟹   NP_001372588
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,158,479 - 22,164,479 (+)NCBI
T2T-CHM13v2.0822,432,424 - 22,438,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385660   ⟹   NP_001372589
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,157,383 - 22,164,479 (+)NCBI
T2T-CHM13v2.0822,431,328 - 22,438,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003018   ⟹   NP_003009
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,161,798 - 22,164,479 (+)NCBI
GRCh37822,014,853 - 22,021,992 (+)NCBI
Build 36822,075,129 - 22,077,937 (+)NCBI Archive
HuRef820,561,488 - 20,564,296 (+)ENTREZGENE
CHM1_1822,220,843 - 22,223,651 (+)NCBI
T2T-CHM13v2.0822,435,743 - 22,438,424 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544613   ⟹   XP_011542915
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,161,776 - 22,164,479 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001165828 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165881 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304707 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304708 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304709 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372582 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372583 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372584 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372585 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372586 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372587 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372588 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372589 (Get FASTA)   NCBI Sequence Viewer  
  NP_003009 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542915 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36631 (Get FASTA)   NCBI Sequence Viewer  
  AAA36634 (Get FASTA)   NCBI Sequence Viewer  
  AAB60332 (Get FASTA)   NCBI Sequence Viewer  
  AAC32022 (Get FASTA)   NCBI Sequence Viewer  
  AAC32023 (Get FASTA)   NCBI Sequence Viewer  
  AAH05913 (Get FASTA)   NCBI Sequence Viewer  
  AAP88034 (Get FASTA)   NCBI Sequence Viewer  
  AAQ67734 (Get FASTA)   NCBI Sequence Viewer  
  ABI63378 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33787 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33788 (Get FASTA)   NCBI Sequence Viewer  
  BAG38097 (Get FASTA)   NCBI Sequence Viewer  
  BAG60401 (Get FASTA)   NCBI Sequence Viewer  
  CAJ18780 (Get FASTA)   NCBI Sequence Viewer  
  EAW63705 (Get FASTA)   NCBI Sequence Viewer  
  EAW63706 (Get FASTA)   NCBI Sequence Viewer  
  EAW63707 (Get FASTA)   NCBI Sequence Viewer  
  P11686 (Get FASTA)   NCBI Sequence Viewer  
  USU43683 (Get FASTA)   NCBI Sequence Viewer  
  USU43684 (Get FASTA)   NCBI Sequence Viewer  
  USU43685 (Get FASTA)   NCBI Sequence Viewer  
  USU43686 (Get FASTA)   NCBI Sequence Viewer  
  USU43687 (Get FASTA)   NCBI Sequence Viewer  
  USU43688 (Get FASTA)   NCBI Sequence Viewer  
  USU43689 (Get FASTA)   NCBI Sequence Viewer  
  USU43690 (Get FASTA)   NCBI Sequence Viewer  
  USU43691 (Get FASTA)   NCBI Sequence Viewer  
  USU43692 (Get FASTA)   NCBI Sequence Viewer  
  USU43693 (Get FASTA)   NCBI Sequence Viewer  
  USU43694 (Get FASTA)   NCBI Sequence Viewer  
  USU43695 (Get FASTA)   NCBI Sequence Viewer  
  USU43696 (Get FASTA)   NCBI Sequence Viewer  
  USU43697 (Get FASTA)   NCBI Sequence Viewer  
  USU43698 (Get FASTA)   NCBI Sequence Viewer  
  USU43699 (Get FASTA)   NCBI Sequence Viewer  
  USU43700 (Get FASTA)   NCBI Sequence Viewer  
  USU43701 (Get FASTA)   NCBI Sequence Viewer  
  USU43702 (Get FASTA)   NCBI Sequence Viewer  
  USU43703 (Get FASTA)   NCBI Sequence Viewer  
  USU43704 (Get FASTA)   NCBI Sequence Viewer  
  USU43705 (Get FASTA)   NCBI Sequence Viewer  
  USU43706 (Get FASTA)   NCBI Sequence Viewer  
  USU43707 (Get FASTA)   NCBI Sequence Viewer  
  USU43708 (Get FASTA)   NCBI Sequence Viewer  
  USU43709 (Get FASTA)   NCBI Sequence Viewer  
  USU43710 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_003009   ⟸   NM_003018
- Peptide Label: isoform 1 precursor
- UniProtKB: P11686 (UniProtKB/Swiss-Prot),   A0A0S2Z4Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165881   ⟸   NM_001172410
- Peptide Label: isoform 1 precursor
- UniProtKB: P11686 (UniProtKB/Swiss-Prot),   A0A0S2Z4Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165828   ⟸   NM_001172357
- Peptide Label: isoform 2
- UniProtKB: P11686 (UniProtKB/Swiss-Prot),   A0A0A0MTC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542915   ⟸   XM_011544613
- Peptide Label: isoform X1
- UniProtKB: E5RI64 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304707   ⟸   NM_001317778
- Peptide Label: isoform 2
- UniProtKB: P11686 (UniProtKB/Swiss-Prot),   A0A0A0MTC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304709   ⟸   NM_001317780
- Peptide Label: isoform 2
- UniProtKB: P11686 (UniProtKB/Swiss-Prot),   A0A0A0MTC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304708   ⟸   NM_001317779
- Peptide Label: isoform 3
- UniProtKB: P11686 (UniProtKB/Swiss-Prot),   E5RI64 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000430266   ⟸   ENST00000520605
RefSeq Acc Id: ENSP00000430410   ⟸   ENST00000521315
RefSeq Acc Id: ENSP00000429496   ⟸   ENST00000522109
RefSeq Acc Id: ENSP00000429619   ⟸   ENST00000523296
RefSeq Acc Id: ENSP00000429552   ⟸   ENST00000524255
RefSeq Acc Id: ENSP00000316152   ⟸   ENST00000318561
RefSeq Acc Id: ENSP00000407931   ⟸   ENST00000437090
RefSeq Acc Id: NP_001372584   ⟸   NM_001385655
- Peptide Label: isoform 1
- UniProtKB: A0A0S2Z4Q0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372583   ⟸   NM_001385654
- Peptide Label: isoform 1
- UniProtKB: A0A0S2Z4Q0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372585   ⟸   NM_001385656
- Peptide Label: isoform 2
- UniProtKB: A0A0A0MTC9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372587   ⟸   NM_001385658
- Peptide Label: isoform 2
- UniProtKB: A0A0A0MTC9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372586   ⟸   NM_001385657
- Peptide Label: isoform 2
- UniProtKB: A0A0A0MTC9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372589   ⟸   NM_001385660
- Peptide Label: isoform 3
- UniProtKB: E5RI64 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372588   ⟸   NM_001385659
- Peptide Label: isoform 2
- UniProtKB: A0A0A0MTC9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372582   ⟸   NM_001385653
- Peptide Label: isoform 1
- UniProtKB: A0A0S2Z4Q0 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000505152   ⟸   ENST00000679463
Protein Domains
BRICHOS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P11686-F1-model_v2 AlphaFold P11686 1-197 view protein structure

Promoters
RGD ID:6850332
Promoter ID:EP25050
Type:single initiation site
Name:HS_SFTPC
Description:Surfactant protein 5K, SFTPC or SFTP2 gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:lung
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 36822,075,257 - 22,075,317EPD
RGD ID:7212785
Promoter ID:EPDNEW_H12138
Type:multiple initiation site
Name:SFTPC_2
Description:surfactant protein C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12131  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,161,798 - 22,161,858EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10802 AgrOrtholog
COSMIC SFTPC COSMIC
Ensembl Genes ENSG00000168484 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000316152 ENTREZGENE
  ENSP00000316152.3 UniProtKB/Swiss-Prot
  ENSP00000407931.2 UniProtKB/TrEMBL
  ENSP00000429496.1 UniProtKB/TrEMBL
  ENSP00000429552 ENTREZGENE
  ENSP00000429552.1 UniProtKB/TrEMBL
  ENSP00000429619 ENTREZGENE
  ENSP00000429619.1 UniProtKB/TrEMBL
  ENSP00000430266.1 UniProtKB/TrEMBL
  ENSP00000430410 ENTREZGENE
  ENSP00000430410.1 UniProtKB/TrEMBL
  ENSP00000505152 ENTREZGENE
  ENSP00000505152.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000318561 ENTREZGENE
  ENST00000318561.7 UniProtKB/Swiss-Prot
  ENST00000437090.6 UniProtKB/TrEMBL
  ENST00000520605.5 UniProtKB/TrEMBL
  ENST00000521315 ENTREZGENE
  ENST00000521315.5 UniProtKB/TrEMBL
  ENST00000522109.5 UniProtKB/TrEMBL
  ENST00000523296 ENTREZGENE
  ENST00000523296.1 UniProtKB/TrEMBL
  ENST00000524255 ENTREZGENE
  ENST00000524255.5 UniProtKB/TrEMBL
  ENST00000679463 ENTREZGENE
  ENST00000679463.1 UniProtKB/TrEMBL
GTEx ENSG00000168484 GTEx
HGNC ID HGNC:10802 ENTREZGENE
Human Proteome Map SFTPC Human Proteome Map
InterPro BRICHOS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SP-C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SP-C_palmitoylation_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Surfactant_protein_propep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6440 ENTREZGENE
OMIM 178620 OMIM
  610913 OMIM
PANTHER PTHR10800 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BRICHOS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SP_C-Propep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35714 PharmGKB
PROSITE BRICHOS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SURFACT_PALMITOYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BRICHOS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SF_P UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MTC9 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4Q0 ENTREZGENE, UniProtKB/TrEMBL
  C9JYF6_HUMAN UniProtKB/TrEMBL
  E5RG20_HUMAN UniProtKB/TrEMBL
  E5RHW5_HUMAN UniProtKB/TrEMBL
  E5RI64 ENTREZGENE, UniProtKB/TrEMBL
  E5RI92_HUMAN UniProtKB/TrEMBL
  P11686 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6XNE4 UniProtKB/Swiss-Prot
  B2RE00 UniProtKB/Swiss-Prot
  E9PGX3 UniProtKB/Swiss-Prot
  P11687 UniProtKB/Swiss-Prot
  Q12793 UniProtKB/Swiss-Prot
  Q7Z5D0 UniProtKB/Swiss-Prot