RGD:28906352 Rat Genome Database

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Variant: RGD:28906352 -  Homo sapiens

RGD ID: 28906352
RS ID: rs957889901
ClinVar ID: CV899332
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SFTPC  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 22,020,628
GRCh38 8 22,163,115
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172357.2:c.237G>A
NM_001172410.2:c.237G>A
NM_001317778.2:c.237G>A
NM_001317780.2:c.237G>A
More... 		04/27/2017 synonymous variant uncertain significance DESQUAMATIVE INTERSTITIAL PNEUMONITIS DUE TO SURFACTANT PROTEIN C DEFICIENCY; Familial idiopathic pulmonary fibrosis; Fibrocystic pulmonary dysplasia; Fibrosing alveolitis, cryptogenic; INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN C DEFICIENCY; PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SFTPC
Accession:NM_001172357
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385659
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001172410
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPTSK
LGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385654
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPTSK
LGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385653
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPTSK
LGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001317779
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPVLEMSIGAPEAQQRLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPS
LEALTRKVHNFQMECSLQAKPAVPTSKLGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385656
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385660
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPVLEMSIGAPEAQQRLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPS
LEALTRKVHNFQMECSLQAKPAVPTSKLGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001317780
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385658
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001317778
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385655
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPTSK
LGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_003018
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPTSK
LGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:XM_011544613
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPVLEMSIGAPEAQQRLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPS
LEALTRKVHNFQMECSLQAKPAVPTSKLGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385657
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001158923 CLINVAR
  RCV001158924 CLINVAR
dbSNP (RS) rs957889901 CLINVAR
MedGen C1970470 CLINVAR
  C5561926 CLINVAR
NCBI Gene SFTPC CLINVAR
OMIM 178500 CLINVAR
  178620 CLINVAR
  610913 CLINVAR