RGD:150409022 Rat Genome Database

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Variant: RGD:150409022 -  Homo sapiens

RGD ID: 150409022
RS ID: rs772728968
ClinVar ID: CV1182270
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPINF1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 1,680,480
GRCh38 17 1,777,186
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001329904.2:c.437-1G>A
NM_001329905.2:c.437-1G>A
NM_001329903.2:c.998-1G>A
NM_002615.7:c.998-1G>A
More...
07/22/2021 splice acceptor variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SERPINF1
Accession:NM_002615
Location:INTRON

Gene Symbol:SERPINF1
Accession:NM_001329904
Location:INTRON

Gene Symbol:SERPINF1
Accession:NM_001329903
Location:INTRON

Gene Symbol:SERPINF1
Accession:NM_001329905
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001553763 CLINVAR
dbSNP (RS) rs772728968 CLINVAR
MedGen C0029434 CLINVAR
NCBI Gene SERPINF1 CLINVAR
OMIM 172860 CLINVAR
SNOMED CT 78314001 CLINVAR