rs145412230 Rat Genome Database

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Variant: rs145412230 -  Homo sapiens

RGD ID: 152064484
RS ID: rs145412230
ClinVar ID: CV1606877
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C1QB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 22,987,510
GRCh38 1 22,661,017
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001378156.1:c.387C>T
NM_000491.5:c.393C>T
LRG_23:g.12829C>T
NC_000001.11:g.22661017C>T
More... 		11/19/2023 synonymous variant likely benign none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:C1QB
Accession:NM_001371184
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIPWGSIPVLMLLLLLGLIDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKGEKGLPGLAGDHGEFGEKGDPGI
PGNPGKVGPKGPMGPKGGPGAPGAPGPKGESGDYKATQKIAFSATRTINVPLRRDQTIRFDHVITNMNNNYEPRSGKFTC
KVPGLYYFTYHASSRGNLCVNLMRGRERAQKVVTFCDYAYNTFQVTTGGMVLKLEQGENVFLQATDKNSLLGMEGANSIF
SGFLLFPDMEA*

Gene Symbol:C1QB
Accession:NM_000491
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMKIPWGSIPVLMLLLLLGLIDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKGEKGLPGLAGDHGEFGEKGDP
GIPGNPGKVGPKGPMGPKGGPGAPGAPGPKGESGDYKATQKIAFSATRTINVPLRRDQTIRFDHVITNMNNNYEPRSGKF
TCKVPGLYYFTYHASSRGNLCVNLMRGRERAQKVVTFCDYAYNTFQVTTGGMVLKLEQGENVFLQATDKNSLLGMEGANS
IFSGFLLFPDMEA*

Gene Symbol:C1QB
Accession:NM_001378156
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIPWGSIPVLMLLLLLGLIDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKGEKGLPGLAGDHGEFGEKGDPGI
PGNPGKVGPKGPMGPKGGPGAPGAPGPKGESGDYKATQKIAFSATRTINVPLRRDQTIRFDHVITNMNNNYEPRSGKFTC
KVPGLYYFTYHASSRGNLCVNLMRGRERAQKVVTFCDYAYNTFQVTTGGMVLKLEQGENVFLQATDKNSLLGMEGANSIF
SGFLLFPDMEA*
.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002209127 CLINVAR
dbSNP (RS) rs145412230 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene C1QB CLINVAR
OMIM 120570 CLINVAR