RGD:401857661 Rat Genome Database

RGD:401857661 Rat Genome Database

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Variant: RGD:401857661 - Homo sapiens

RGD ID:

401857661

ClinVar ID:

CV2752183

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	11	17,409,578
GRCh38	11	17,388,031

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001166290.2:c.-16-185C>A NM_001377297.1:c.-16-185C>A NM_001377296.1:c.-30C>A NM_000525.4:c.61C>A More...	11/10/2022	5 prime utr variant	uncertain significance	Diabetes mellitus MODY type 3; Diabetes mellitus, insulin-dependent, 20; 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; Maturity-onset diabetes of the young type 3; MODY type 3; MODY hepatocyte nuclear factor-1-alpha related; MODY, TYPE 13; MODY, type III; Type 1 diabetes mellitus 20; Type 2 diabetes mellitus; Type I diabetes mellitus; Type II diabetes mellitus

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2752183	Human	Transient Neonatal Diabetes Mellitus, 3		IAGP		8554872	ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3	ClinVar	PMID:25741868
CV2752183	Human	type 1 diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Diabetes mellitus type 1	ClinVar	PMID:25741868

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2752183	Human	Type I diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Type I diabetes mellitus	ClinVar	PMID:25741868
CV2752183	Human	Type II diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Type II diabetes mellitus	ClinVar	PMID:25741868

Gene Symbol:	KCNJ11
Accession:	NM_001377296
Location:	5UTRS;EXON

Gene Symbol:	KCNJ11
Accession:	NM_001166290
Location:	5UTRS;INTRON

Gene Symbol:	KCNJ11
Accession:	NM_001377297
Location:	5UTRS;INTRON

Gene Symbol:	KCNJ11
Accession:	NM_000525
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	21

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSRKGIIPEEYVLTRLAEDTAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFL CSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMIN AIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVA EEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV003336590	CLINVAR
	RCV005047539	CLINVAR
MedGen	C0011854	CLINVAR
	C1864623	CLINVAR
NCBI Gene	KCNJ11	CLINVAR
OMIM	125853	CLINVAR
	222100	CLINVAR
	600496	CLINVAR
	600937	CLINVAR
	601820	CLINVAR
	610582	CLINVAR
	612520	CLINVAR
	616329	CLINVAR
	618856	CLINVAR
SNOMED CT	44054006	CLINVAR
	46635009	CLINVAR