rs1686787668 Rat Genome Database

rs1686787668 Rat Genome Database

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Variant: rs1686787668 - Homo sapiens

RGD ID:

152076401

RS ID:

rs1686787668

ClinVar ID:

CV1551448

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	2	32,466,094
GRCh38	2	32,241,025

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_1317t1:c.2350+9del NM_001199138.2:c.2350+9del NM_001199139.1:c.2350+9del NM_021209.4:c.2350+9del More...	04/26/2021	intron variant	likely benign	Autoinflammation with infantile enterocolitis; Familial cold autoinflammatory syndrome 4

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1551448	Human	Autoinflammation with Infantile Enterocolitis		IAGP		8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:28492532
CV1551448	Human	familial cold autoinflammatory syndrome 4		IAGP		8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:28492532

Gene Symbol:	NLRC4
Accession:	NM_021209
Location:	INTRON

Gene Symbol:	NLRC4
Accession:	NM_001199138
Location:	INTRON

Gene Symbol:	NLRC4
Accession:	NM_001199139
Location:	INTRON

Gene Symbol:	NLRC4
Accession:	NM_001302504
Location:	INTRON

Gene Symbol:	NLRC4
Accession:	XM_047445356
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002192467	CLINVAR
dbSNP (RS)	rs1686787668	CLINVAR
MedGen	C4015067	CLINVAR
NCBI Gene	NLRC4	CLINVAR
OMIM	606831	CLINVAR
	616050	CLINVAR
	616115	CLINVAR