rs539955367 Rat Genome Database

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Variant: rs539955367 -  Homo sapiens

RGD ID: 28875526
RS ID: rs539955367
ClinVar ID: CV872980
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPINA1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 94,844,415
GRCh38 14 94,378,078
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_000295.5:c.*371G>T
NM_001127702.2:c.*371G>T
NM_001127707.2:c.*371G>T
NG_008290.1:g.17615G>T
More... 		01/13/2018 3 prime utr variant uncertain significance A1AT deficiency; AAT deficiency; Alpha1-Antitrypsin Deficiency
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV872980Humanalpha 1-antitrypsin deficiency  IAGP 8554872ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiencyClinVar 
Gene Symbol:SERPINA1
Accession:NM_001127703
Location:3UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001127705
Location:3UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001002235
Location:3UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001002236
Location:3UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_000295
Location:3UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001127706
Location:3UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001127700
Location:3UTRS;EXON

Gene Symbol:SERPINA1
Accession:XM_047431478
Location:3UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001127701
Location:3UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001127702
Location:3UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001127704
Location:3UTRS;EXON

Gene Symbol:SERPINA1
Accession:NM_001127707
Location:3UTRS;EXON

Gene Symbol:SERPINA1
Accession:XM_047431479
Location:3UTRS;EXON

Gene Symbol:SERPINA1
Accession:XM_017021370
Location:3UTRS;EXON

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Database
Acc Id
Source(s)
ClinVar RCV001115944 CLINVAR
dbSNP (RS) rs539955367 CLINVAR
MedGen C0221757 CLINVAR
NCBI Gene SERPINA1 CLINVAR
OMIM 107400 CLINVAR
  613490 CLINVAR
SNOMED CT 30188007 CLINVAR