RGD:127292062 Rat Genome Database

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Variant: RGD:127292062 -  Homo sapiens

RGD ID: 127292062
RS ID: rs368473383
ClinVar ID: CV1153516
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C1QA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 22,965,696
GRCh38 1 22,639,203
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.534C>T
NM_001347466.2:c.534C>T
NM_015991.4:c.534C>T
LRG_22:g.7579C>T
More... 		11/23/2020 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:C1QA
Accession:NM_015991
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGRPGLKGEQGEPGAPGIRTGIQGLKGDQGEPGPSGNPG
KVGYPGPSGPLGARGIPGIKGTKGSPGNIKDQPRPAFSAIRRNPPMGGNVVIFDTVITNQEEPYQNHSGRFVCTVPGYYY
FTFQVLSQWEICLSIVSSSRGQVRRSLGFCDTTNKGLFQVVSGGMVLQLQQGDQVWVEKDPKKGHIYQGSEADSVFSGFL
IFPSA*

Gene Symbol:C1QA
Accession:NM_001347466
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGRPGLKGEQGEPGAPGIRTGIQGLKGDQGEPGPSGNPG
KVGYPGPSGPLGARGIPGIKGTKGSPGNIKDQPRPAFSAIRRNPPMGGNVVIFDTVITNQEEPYQNHSGRFVCTVPGYYY
FTFQVLSQWEICLSIVSSSRGQVRRSLGFCDTTNKGLFQVVSGGMVLQLQQGDQVWVEKDPKKGHIYQGSEADSVFSGFL
IFPSA*

Gene Symbol:C1QA
Accession:NM_001347465
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGRPGLKGEQGEPGAPGIRTGIQGLKGDQGEPGPSGNPG
KVGYPGPSGPLGARGIPGIKGTKGSPGNIKDQPRPAFSAIRRNPPMGGNVVIFDTVITNQEEPYQNHSGRFVCTVPGYYY
FTFQVLSQWEICLSIVSSSRGQVRRSLGFCDTTNKGLFQVVSGGMVLQLQQGDQVWVEKDPKKGHIYQGSEADSVFSGFL
IFPSA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001510708 CLINVAR
dbSNP (RS) rs368473383 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene C1QA CLINVAR
OMIM 120550 CLINVAR