rs34813378 Rat Genome Database

rs34813378 Rat Genome Database

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Variant: rs34813378 - Homo sapiens

RGD ID:

13437589

RS ID:

rs34813378

ClinVar ID:

CV434367

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

C1QB

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	1	22,987,847
GRCh38	1	22,661,354

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_23:g.13166G>A NG_007283.1:g.13166G>A NC_000001.11:g.22661354G>A NC_000001.10:g.22987847G>A More...	09/28/2017	missense variant	pathogenic

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV434367	Human	C1q Deficiency		IAGP		8554872	ClinVar Annotator: match by term: C1q deficiency	ClinVar	PMID:17513176 and PMID:21654842

Gene Symbol:	C1QB
Accession:	NM_000491
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMMKIPWGSIPVLMLLLLLGLIDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKGEKGLPGLAGDHGEFGEKGDP GIPGNPGKVGPKGPMGPKGGPGAPGAPGPKGESGDYKATQKIAFSATRTINVPLRRDQTIRFDHVITNMNNNYEPRSGKF TCKVPGLYYFTYHASSRGNLCVNLMRGRERAQKVVTFCDYAYNTFQVTTGGMVLKLEQGENVFLQATDKNSLLGMEGANS IFSRFLLFPDMEA*

Gene Symbol:	C1QB
Accession:	NM_001371184
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	242

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKIPWGSIPVLMLLLLLGLIDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKGEKGLPGLAGDHGEFGEKGDPGI PGNPGKVGPKGPMGPKGGPGAPGAPGPKGESGDYKATQKIAFSATRTINVPLRRDQTIRFDHVITNMNNNYEPRSGKFTC KVPGLYYFTYHASSRGNLCVNLMRGRERAQKVVTFCDYAYNTFQVTTGGMVLKLEQGENVFLQATDKNSLLGMEGANSIF SRFLLFPDMEA*

Gene Symbol:	C1QB
Accession:	NM_001378156
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	242

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKIPWGSIPVLMLLLLLGLIDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKGEKGLPGLAGDHGEFGEKGDPGI PGNPGKVGPKGPMGPKGGPGAPGAPGPKGESGDYKATQKIAFSATRTINVPLRRDQTIRFDHVITNMNNNYEPRSGKFTC KVPGLYYFTYHASSRGNLCVNLMRGRERAQKVVTFCDYAYNTFQVTTGGMVLKLEQGENVFLQATDKNSLLGMEGANSIF SRFLLFPDMEA*

ClinVar GRCh37	ClinVar GRCh38

PMID:17513176	PMID:21654842

Database	Acc Id	Source(s)
ClinVar	RCV000508980	CLINVAR
dbSNP (RS)	rs34813378	CLINVAR
MedGen	C3150902	CLINVAR
NCBI Gene	C1QB	CLINVAR
OMIM	120570	CLINVAR
OMIM Allele	120570.0003	CLINVAR