rs1465637711 Rat Genome Database

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Variant: rs1465637711 -  Homo sapiens

RGD ID: 14978078
RS ID: rs1465637711
ClinVar ID: CV677238
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPING1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 57,367,669
GRCh38 11 57,600,196
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.369C>G
NC_000011.10:g.57600196C>G
NC_000011.9:g.57367669C>G
NP_000053.2:p.Cys123Trp
More... 		missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
angioedema  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Angioedema  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:SERPING1
Accession:NM_000062
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITA
NTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFWPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAM
KKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNAS
RTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVI
KVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPR
IKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFV
LWDQQHKFPVFMGRVYDPRA*

Gene Symbol:SERPING1
Accession:NM_001032295
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITA
NTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFWPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAM
KKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNAS
RTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVI
KVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPR
IKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFV
LWDQQHKFPVFMGRVYDPRA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000850286 CLINVAR
dbSNP (RS) rs1465637711 CLINVAR
MedGen C0002994 CLINVAR
NCBI Gene SERPING1 CLINVAR
OMIM 606860 CLINVAR