RGD:8563578 Rat Genome Database

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Variant: RGD:8563578 -  Homo sapiens

RGD ID: 8563578
RS ID: rs1586422427
ClinVar ID: CV28250
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SFTPC  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 22,021,060
GRCh38 8 22,163,547
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_001317779.2:c.276+1G>T
NM_001172357.2:c.435+1G>T
NM_001172410.2:c.435+1G>T
NM_001317778.2:c.435+1G>T
More... 		08/07/2013 splice donor variant pathogenic all ages DESQUAMATIVE INTERSTITIAL PNEUMONITIS DUE TO SURFACTANT PROTEIN C DEFICIENCY; 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_001385653
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001172410
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001385655
Location:INTRON

Gene Symbol:SFTPC
Accession:XM_011544613
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001317779
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001385654
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001317780
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001385658
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_003018
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001385656
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001385660
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001172357
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001317778
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001385657
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001385659
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11207353  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000014098 CLINVAR
dbSNP (RS) rs1586422427 CLINVAR
MedGen C1970470 CLINVAR
NCBI Gene SFTPC CLINVAR
OMIM 178620 CLINVAR
  610913 CLINVAR
OMIM Allele 178620.0005 CLINVAR