RGD:13437594 Rat Genome Database

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Variant: RGD:13437594 -  Homo sapiens

RGD ID: 13437594
RS ID: rs34139950
ClinVar ID: CV434365
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C1QA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 22,965,810
GRCh38 1 22,639,317
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001347465.2:c.648G>A
NM_015991.4:c.648G>A
LRG_22:g.7693G>A
NG_007282.1:g.7693G>A
More... 		09/28/2017 nonsense pathogenic
Disease Annotations     Click to see Annotation Detail View
C1q Deficiency  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:C1QA
Accession:NM_015991
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 216
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGRPGLKGEQGEPGAPGIRTGIQGLKGDQGEPGPSGNPG
KVGYPGPSGPLGARGIPGIKGTKGSPGNIKDQPRPAFSAIRRNPPMGGNVVIFDTVITNQEEPYQNHSGRFVCTVPGYYY
FTFQVLSQWEICLSIVSSSRGQVRRSLGFCDTTNKGLFQVVSGGMVLQLQQGDQV*VEKDPKKGHIYQGSEADSVFSGFL
IFPSA*

Gene Symbol:C1QA
Accession:NM_001347466
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 216
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGRPGLKGEQGEPGAPGIRTGIQGLKGDQGEPGPSGNPG
KVGYPGPSGPLGARGIPGIKGTKGSPGNIKDQPRPAFSAIRRNPPMGGNVVIFDTVITNQEEPYQNHSGRFVCTVPGYYY
FTFQVLSQWEICLSIVSSSRGQVRRSLGFCDTTNKGLFQVVSGGMVLQLQQGDQV*VEKDPKKGHIYQGSEADSVFSGFL
IFPSA*

Gene Symbol:C1QA
Accession:NM_001347465
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 216
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGRPGLKGEQGEPGAPGIRTGIQGLKGDQGEPGPSGNPG
KVGYPGPSGPLGARGIPGIKGTKGSPGNIKDQPRPAFSAIRRNPPMGGNVVIFDTVITNQEEPYQNHSGRFVCTVPGYYY
FTFQVLSQWEICLSIVSSSRGQVRRSLGFCDTTNKGLFQVVSGGMVLQLQQGDQV*VEKDPKKGHIYQGSEADSVFSGFL
IFPSA*
Variant Samples
Additional References at PubMed
PMID:21654842  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000508985 CLINVAR
dbSNP (RS) rs34139950 CLINVAR
MedGen C3150902 CLINVAR
NCBI Gene C1QA CLINVAR
OMIM 120550 CLINVAR
OMIM Allele 120550.0002 CLINVAR