RGD:11619763 Rat Genome Database

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Variant: RGD:11619763 -  Homo sapiens

RGD ID: 11619763
RS ID: rs559054925
ClinVar ID: CV331164
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPINA1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 94,854,899
GRCh38 14 94,388,562
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008290.1:g.7131A>G
NC_000014.9:g.94388562T>C
NC_000014.8:g.94854899T>C
NM_000295.5:c.-7A>G
More... 		01/06/2022 5 prime utr variant likely benign|uncertain significance all ages 1-5 / 10 000 A1AT deficiency; AAT deficiency; Alpha1-Antitrypsin Deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SERPINA1
Accession:NM_001127705
Location:5UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_000295
Location:5UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001002236
Location:5UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001127704
Location:5UTRS;EXON

Gene Symbol:SERPINA1
Accession:XM_017021370
Location:5UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001127707
Location:5UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001127702
Location:5UTRS;EXON

Gene Symbol:SERPINA1
Accession:XM_047431478
Location:5UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001127706
Location:5UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001127701
Location:5UTRS;EXON

Gene Symbol:SERPINA1
Accession:XM_047431479
Location:5UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001127703
Location:5UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001002235
Location:5UTRS;INTRON

Gene Symbol:SERPINA1
Accession:NM_001127700
Location:5UTRS;INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000329132 CLINVAR
  RCV000594715 CLINVAR
  RCV003972344 CLINVAR
dbSNP (RS) rs559054925 CLINVAR
MedGen C0221757 CLINVAR
  C3661900 CLINVAR
NCBI Gene SERPINA1 CLINVAR
OMIM 107400 CLINVAR
  613490 CLINVAR
SNOMED CT 30188007 CLINVAR