RGD:13437540 Rat Genome Database

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Variant: RGD:13437540 -  Homo sapiens

RGD ID: 13437540
RS ID: rs1555368758
ClinVar ID: CV434124
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: SERPINA1  
Reference Nucleotide: C
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 14 94,847,478
GRCh38 14 94,381,141
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.9:g.94381142del
NC_000014.8:g.94847479del
NC_000014.9:g.94381142delC
NM_000295.5:c.647del
More...
05/09/2023 splice acceptor variant pathogenic|likely pathogenic A1AT deficiency; AAT deficiency; Alpha1-Antitrypsin Deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SERPINA1
Accession:NM_001002235
Location:INTRON

Gene Symbol:SERPINA1
Accession:NM_001127707
Location:INTRON

Gene Symbol:SERPINA1
Accession:NM_001127706
Location:INTRON

Gene Symbol:SERPINA1
Accession:NM_001127704
Location:INTRON

Gene Symbol:SERPINA1
Accession:NM_001127703
Location:INTRON

Gene Symbol:SERPINA1
Accession:NM_001127705
Location:INTRON

Gene Symbol:SERPINA1
Accession:NM_001002236
Location:INTRON

Gene Symbol:SERPINA1
Accession:NM_001127700
Location:INTRON

Gene Symbol:SERPINA1
Accession:NM_001127702
Location:INTRON

Gene Symbol:SERPINA1
Accession:NM_001127701
Location:INTRON

Gene Symbol:SERPINA1
Accession:NM_000295
Location:INTRON

Gene Symbol:SERPINA1
Accession:XM_017021370
Location:INTRON

Gene Symbol:SERPINA1
Accession:XM_047431479
Location:INTRON

Gene Symbol:SERPINA1
Accession:XM_047431478
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000508923 CLINVAR
dbSNP (RS) rs1555368758 CLINVAR
MedGen C0221757 CLINVAR
NCBI Gene SERPINA1 CLINVAR
OMIM 107400 CLINVAR
  613490 CLINVAR
SNOMED CT 30188007 CLINVAR