RGD:8596232 Rat Genome Database

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Variant: RGD:8596232 -  Homo sapiens

RGD ID: 8596232
RS ID: rs121907951
ClinVar ID: CV18996
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPING1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 57,369,554
GRCh38 11 57,602,081
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
LRG_105:g.9528C>G
NG_009625.1:g.9528C>G
NC_000011.10:g.57602081C>G
NC_000011.9:g.57369554C>G
More... 		12/19/2012 nonsense|stop-gain pathogenic all ages|variable 1-9 / 100 000 Deficiency of C1 esterase inhibitor
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SERPING1
Accession:NM_001032295
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 199
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITA
NTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAM
KKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILS*PKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNAS
RTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVI
KVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPR
IKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFV
LWDQQHKFPVFMGRVYDPRA*

Gene Symbol:SERPING1
Accession:NM_000062
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 199
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITA
NTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAM
KKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILS*PKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNAS
RTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVI
KVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPR
IKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFV
LWDQQHKFPVFMGRVYDPRA*
Variant Samples
Additional References at PubMed
PMID:16813612  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004163 CLINVAR
dbSNP (RS) rs121907951 CLINVAR
MedGen C2717906 CLINVAR
NCBI Gene SERPING1 CLINVAR
OMIM 106100 CLINVAR
  606860 CLINVAR
OMIM Allele 606860.0014 CLINVAR