rs2135327898 Rat Genome Database

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Variant: rs2135327898 -  Homo sapiens

RGD ID: 153304454
RS ID: rs2135327898
ClinVar ID: CV1687070
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPING1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 57,381,860
GRCh38 11 57,614,387
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000062.3:c.1309C>T
NM_001032295.2:c.1309C>T
NC_000011.9:g.57381860C>T
NP_000053.2:p.Gln437Ter
More... 		07/22/2024 nonsense pathogenic Deficiency of C1 esterase inhibitor; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SERPING1
Accession:NM_001032295
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 437
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITA
NTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAM
KKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNAS
RTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVI
KVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPR
IKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDL*VSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFV
LWDQQHKFPVFMGRVYDPRA*

Gene Symbol:SERPING1
Accession:NM_000062
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 437
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITA
NTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAM
KKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNAS
RTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVI
KVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPR
IKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDL*VSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFV
LWDQQHKFPVFMGRVYDPRA*
Variant Samples
Additional References at PubMed
PMID:24456027   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002262358 CLINVAR
  RCV004595656 CLINVAR
dbSNP (RS) rs2135327898 CLINVAR
MedGen C2717906 CLINVAR
  C3661900 CLINVAR
NCBI Gene SERPING1 CLINVAR
OMIM 106100 CLINVAR
  606860 CLINVAR