RGD:156166868 Rat Genome Database

RGD:156166868 Rat Genome Database

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Variant: RGD:156166868 - Homo sapiens

RGD ID:

156166868

ClinVar ID:

CV2184776

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

C1QB

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	1	22,987,728
GRCh38	1	22,661,235

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_23t1:c.611C>T NM_001371184.3:c.605C>T NM_001378156.1:c.605C>T NM_000491.5:c.611C>T More...	08/18/2022	missense variant	uncertain significance	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	C1QB
Accession:	NM_001378156
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	202

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKIPWGSIPVLMLLLLLGLIDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKGEKGLPGLAGDHGEFGEKGDPGI PGNPGKVGPKGPMGPKGGPGAPGAPGPKGESGDYKATQKIAFSATRTINVPLRRDQTIRFDHVITNMNNNYEPRSGKFTC KVPGLYYFTYHASSRGNLCVNLMRGRERAQKVVTFCDYAYNIFQVTTGGMVLKLEQGENVFLQATDKNSLLGMEGANSIF SGFLLFPDMEA*

Gene Symbol:	C1QB
Accession:	NM_000491
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMMKIPWGSIPVLMLLLLLGLIDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKGEKGLPGLAGDHGEFGEKGDP GIPGNPGKVGPKGPMGPKGGPGAPGAPGPKGESGDYKATQKIAFSATRTINVPLRRDQTIRFDHVITNMNNNYEPRSGKF TCKVPGLYYFTYHASSRGNLCVNLMRGRERAQKVVTFCDYAYNIFQVTTGGMVLKLEQGENVFLQATDKNSLLGMEGANS IFSGFLLFPDMEA*

Gene Symbol:	C1QB
Accession:	NM_001371184
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	202

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKIPWGSIPVLMLLLLLGLIDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKGEKGLPGLAGDHGEFGEKGDPGI PGNPGKVGPKGPMGPKGGPGAPGAPGPKGESGDYKATQKIAFSATRTINVPLRRDQTIRFDHVITNMNNNYEPRSGKFTC KVPGLYYFTYHASSRGNLCVNLMRGRERAQKVVTFCDYAYNIFQVTTGGMVLKLEQGENVFLQATDKNSLLGMEGANSIF SGFLLFPDMEA*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003057098	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	C1QB	CLINVAR
OMIM	120570	CLINVAR