RGD:28891146 Rat Genome Database

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Variant: RGD:28891146 -  Homo sapiens

RGD ID: 28891146
RS ID: rs777765085
ClinVar ID: CV872974
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPINA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 94,844,090
GRCh38 14 94,377,753
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001002236.3:c.*696C>T
NM_001127706.2:c.*696C>T
NM_001127707.2:c.*696C>T
NG_008290.1:g.17940C>T
More...
04/27/2017 3 prime utr variant uncertain significance 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:3UTRS;EXON

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

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

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

Gene Symbol:SERPINA1
Accession:NM_001127703
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001120869 CLINVAR
dbSNP (RS) rs777765085 CLINVAR
MedGen C0221757 CLINVAR
NCBI Gene SERPINA1 CLINVAR
OMIM 107400 CLINVAR
  613490 CLINVAR
SNOMED CT 30188007 CLINVAR