RGD:28908990 Rat Genome Database

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Variant: RGD:28908990 -  Homo sapiens

RGD ID: 28908990
RS ID: rs892113541
ClinVar ID: CV899336
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SFTPC  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 22,021,946
GRCh38 8 22,164,433
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.*178G>A
NM_001317780.2:c.*178G>A
NM_001317778.2:c.*186G>A
NM_001317779.2:c.*186G>A
More... 		01/12/2018 3 prime utr 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_001385659
Location:3UTRS;EXON

Gene Symbol:SFTPC
Accession:NM_001172410
Location:3UTRS;EXON

Gene Symbol:SFTPC
Accession:NM_001385657
Location:3UTRS;EXON

Gene Symbol:SFTPC
Accession:NM_001385653
Location:3UTRS;EXON

Gene Symbol:SFTPC
Accession:XM_011544613
Location:3UTRS;EXON

Gene Symbol:SFTPC
Accession:NM_001385656
Location:3UTRS;EXON

Gene Symbol:SFTPC
Accession:NM_001385654
Location:3UTRS;EXON

Gene Symbol:SFTPC
Accession:NM_001385658
Location:3UTRS;EXON

Gene Symbol:SFTPC
Accession:NM_001172357
Location:3UTRS;EXON

Gene Symbol:SFTPC
Accession:NM_003018
Location:3UTRS;EXON

Gene Symbol:SFTPC
Accession:NM_001317780
Location:3UTRS;EXON

Gene Symbol:SFTPC
Accession:NM_001317779
Location:3UTRS;EXON

Gene Symbol:SFTPC
Accession:NM_001385655
Location:3UTRS;EXON

Gene Symbol:SFTPC
Accession:NM_001317778
Location:3UTRS;EXON

Gene Symbol:SFTPC
Accession:NM_001385660
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001160359 CLINVAR
  RCV001160360 CLINVAR
dbSNP (RS) rs892113541 CLINVAR
MedGen C1970470 CLINVAR
  C5561926 CLINVAR
NCBI Gene SFTPC CLINVAR
OMIM 178500 CLINVAR
  178620 CLINVAR
  610913 CLINVAR