RGD:150459151 Rat Genome Database

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Variant: RGD:150459151 -  Homo sapiens

RGD ID: 150459151
RS ID: rs2070685
ClinVar ID: CV1263976
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SFTPC  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 22,021,207
GRCh38 8 22,163,694
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001385657.1:c.435+148C>T
NM_003018.4:c.435+148C>T
NM_001385656.1:c.435+148C>T
NM_001385654.1:c.435+148C>T
More...
07/09/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SFTPC
Accession:NM_003018
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001172410
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001172357
Location:INTRON

Gene Symbol:SFTPC
Accession:XM_011544613
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001317778
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001317780
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001317779
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001385655
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001385654
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001385656
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001385658
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001385657
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001385660
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001385659
Location:INTRON

Gene Symbol:SFTPC
Accession:NM_001385653
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001681890 CLINVAR
dbSNP (RS) rs2070685 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SFTPC CLINVAR
OMIM 178620 CLINVAR