RGD:156176449 Rat Genome Database

RGD:156176449 Rat Genome Database

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Variant: RGD:156176449 - Homo sapiens

RGD ID:

156176449

ClinVar ID:

CV1891767

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

C1QB

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	1	22,987,511
GRCh38	1	22,661,018

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_23t1:c.394G>A NM_001371184.3:c.388G>A NM_001378156.1:c.388G>A NM_000491.5:c.394G>A More...	06/30/2022	missense variant	uncertain significance	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1891767	Human	C1q Deficiency 2		IAGP		8554872	ClinVar Annotator: match by term: C1Q deficiency 2	ClinVar	PMID:25741868 and PMID:28492532

Gene Symbol:	C1QB
Accession:	NM_001378156
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	130

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKIPWGSIPVLMLLLLLGLIDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKGEKGLPGLAGDHGEFGEKGDPGI PGNPGKVGPKGPMGPKGGPGAPGAPGPKGESGDYKATQKIAFSATRTINIPLRRDQTIRFDHVITNMNNNYEPRSGKFTC KVPGLYYFTYHASSRGNLCVNLMRGRERAQKVVTFCDYAYNTFQVTTGGMVLKLEQGENVFLQATDKNSLLGMEGANSIF SGFLLFPDMEA*

Gene Symbol:	C1QB
Accession:	NM_000491
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	132

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMMKIPWGSIPVLMLLLLLGLIDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKGEKGLPGLAGDHGEFGEKGDP GIPGNPGKVGPKGPMGPKGGPGAPGAPGPKGESGDYKATQKIAFSATRTINIPLRRDQTIRFDHVITNMNNNYEPRSGKF TCKVPGLYYFTYHASSRGNLCVNLMRGRERAQKVVTFCDYAYNTFQVTTGGMVLKLEQGENVFLQATDKNSLLGMEGANS IFSGFLLFPDMEA*

Gene Symbol:	C1QB
Accession:	NM_001371184
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	130

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKIPWGSIPVLMLLLLLGLIDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKGEKGLPGLAGDHGEFGEKGDPGI PGNPGKVGPKGPMGPKGGPGAPGAPGPKGESGDYKATQKIAFSATRTINIPLRRDQTIRFDHVITNMNNNYEPRSGKFTC KVPGLYYFTYHASSRGNLCVNLMRGRERAQKVVTFCDYAYNTFQVTTGGMVLKLEQGENVFLQATDKNSLLGMEGANSIF SGFLLFPDMEA*

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003083411	CLINVAR
	RCV005019632	CLINVAR
MedGen	C3661900	CLINVAR
	C5830422	CLINVAR
NCBI Gene	C1QB	CLINVAR
OMIM	120570	CLINVAR
	620321	CLINVAR