RGD:597722876 Rat Genome Database

RGD:597722876 Rat Genome Database

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Variant: RGD:597722876 - Homo sapiens

RGD ID:

597722876

ClinVar ID:

CV3723868

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	11	17,409,577
GRCh38	11	17,388,030

JBrowse:

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001166290.2:c.-16-184C>T NM_001377297.1:c.-16-184C>T NM_001377296.1:c.-29C>T NM_000525.4:c.62C>T More...	01/01/2024	5 prime utr variant	uncertain significance	Diabetes mellitus, noninsulin-dependent, late onset; Diabetes mellitus, permanent neonatal 2; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Hyperinsulinemic hypoglycemia, familial, 2; HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, NEONATAL; Maturity-onset diabetes of the young type 13; MODY, TYPE 13; Type 2 diabetes mellitus; Type II diabetes mellitus

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3723868	Human	Transient Neonatal Diabetes Mellitus, 3		IAGP		8554872	ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3	ClinVar	PMID:25741868

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3723868	Human	Type II diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Type II diabetes mellitus	ClinVar	PMID:25741868

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV005050060	CLINVAR
MedGen	C1864623	CLINVAR
NCBI Gene	KCNJ11	CLINVAR
OMIM	125853	CLINVAR
	600937	CLINVAR
	601820	CLINVAR
	610582	CLINVAR
	616329	CLINVAR
	618856	CLINVAR
SNOMED CT	44054006	CLINVAR