RGD:155948285 Rat Genome Database

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Variant: RGD:155948285 -  Homo sapiens

RGD ID: 155948285
ClinVar ID: CV2104455
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C1QC  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 22,970,558
GRCh38 1 22,644,065
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_24t1:c.42G>A
LRG_24t2:c.42G>A
NM_001347620.2:c.-87+351G>A
NP_001107573.1:p.Lys14=
More... 		08/17/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:C1QC
Accession:NM_001347620
Location:5UTRS;INTRON

Gene Symbol:C1QC
Accession:NM_172369
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGPSSLPHLGLKLLLLLLLLPLRGQANTGCYGIPGMPGLPGAPGKDGYDGLPGPKGEPGIPAIPGIRGPKGQKGEPGL
PGHPGKNGPMGPPGMPGVPGPMGIPGEPGEEGRYKQKFQSVFTVTRQTHQPPAPNSLIRFNAVLTNPQGDYDTSTGKFTC
KVPGLYYFVYHASHTANLCVLLYRSGVKVVTFCGHTSKTNQVNSGGVLLRLQVGEEVWLAVNDYYDMVGIQGSDSVFSGF
LLFPD*

Gene Symbol:C1QC
Accession:NM_001347619
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGPSSLPHLGLKLLLLLLLLPLRGQANTGCYGIPGMPGLPGAPGKDGYDGLPGPKGEPGIPAIPGIRGPKGQKGEPGL
PGHPGKNGPMGPPGMPGVPGPMGIPGEPGEEGRYKQKFQSVFTVTRQTHQPPAPNSLIRFNAVLTNPQGDYDTSTGKFTC
KVPGLYYFVYHASHTANLCVLLYRSGVKVVTFCGHTSKTNQVNSGGVLLRLQVGEEVWLAVNDYYDMVGIQGSDSVFSGF
LLFPD*

Gene Symbol:C1QC
Accession:NM_001114101
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVGPSSLPHLGLKLLLLLLLLPLRGQANTGCYGIPGMPGLPGAPGKDGYDGLPGPKGEPGIPAIPGIRGPKGQKGEPGL
PGHPGKNGPMGPPGMPGVPGPMGIPGEPGEEGRYKQKFQSVFTVTRQTHQPPAPNSLIRFNAVLTNPQGDYDTSTGKFTC
KVPGLYYFVYHASHTANLCVLLYRSGVKVVTFCGHTSKTNQVNSGGVLLRLQVGEEVWLAVNDYYDMVGIQGSDSVFSGF
LLFPD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002904910 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene C1QC CLINVAR
OMIM 120575 CLINVAR