RGD:155694428 Rat Genome Database

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Variant: RGD:155694428 -  Homo sapiens

RGD ID: 155694428
ClinVar ID: CV1788842
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SFTPC  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 22,020,958
GRCh38 8 22,163,445
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001385656.1:c.334G>C
NM_001385657.1:c.334G>C
NM_001317779.2:c.175G>C
NM_001385660.1:c.175G>C
More... 		05/22/2020 missense variant likely pathogenic Pulmonary surfactant metabolism dysfunction
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SFTPC
Accession:NM_003018
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIPYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPTSK
LGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385654
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIPYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPTSK
LGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385657
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIPYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:XM_011544613
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPVLEMSIGAPEAQQRLALSEHLVTTATFSIGSTGLVVYDYQQLLIPYKPAPGTCCYIMKIAPESIPS
LEALTRKVHNFQMECSLQAKPAVPTSKLGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385655
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIPYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPTSK
LGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001172357
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIPYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385656
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIPYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001172410
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIPYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPTSK
LGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001317778
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIPYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385653
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIPYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPTSK
LGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385660
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPVLEMSIGAPEAQQRLALSEHLVTTATFSIGSTGLVVYDYQQLLIPYKPAPGTCCYIMKIAPESIPS
LEALTRKVHNFQMECSLQAKPAVPTSKLGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385659
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIPYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385658
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIPYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001317779
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPVLEMSIGAPEAQQRLALSEHLVTTATFSIGSTGLVVYDYQQLLIPYKPAPGTCCYIMKIAPESIPS
LEALTRKVHNFQMECSLQAKPAVPTSKLGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001317780
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIPYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*
Variant Samples
Additional References at PubMed
PMID:20463293   PMID:22308375   PMID:22458263   PMID:28157837  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002320976 CLINVAR
MedGen C3711368 CLINVAR
NCBI Gene SFTPC CLINVAR
OMIM 178620 CLINVAR