RGD:155670314 Rat Genome Database

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Variant: RGD:155670314 -  Homo sapiens

RGD ID: 155670314
ClinVar ID: CV1852055
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SFTPC  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 22,020,655
GRCh38 8 22,163,142
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172410.2:c.264G>A
NM_001317778.2:c.264G>A
NM_001385654.1:c.264G>A
NG_016968.1:g.6472G>A
More... 		04/06/2018 synonymous variant likely benign Pulmonary surfactant metabolism dysfunction
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SFTPC
Accession:NM_001385653
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPTSK
LGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385654
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPTSK
LGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385659
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385658
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001172410
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPTSK
LGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385660
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPVLEMSIGAPEAQQRLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPS
LEALTRKVHNFQMECSLQAKPAVPTSKLGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385655
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPTSK
LGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001172357
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001317780
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001317778
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385657
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_003018
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPTSK
LGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:XM_011544613
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPVLEMSIGAPEAQQRLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPS
LEALTRKVHNFQMECSLQAKPAVPTSKLGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001317779
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPVLEMSIGAPEAQQRLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPS
LEALTRKVHNFQMECSLQAKPAVPTSKLGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*

Gene Symbol:SFTPC
Accession:NM_001385656
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQ
RLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002453051 CLINVAR
MedGen C3711368 CLINVAR
NCBI Gene SFTPC CLINVAR
OMIM 178620 CLINVAR