rs587783668 Rat Genome Database

rs587783668 Rat Genome Database

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Variant: rs587783668 - Homo sapiens

RGD ID:

9682582

RS ID:

rs587783668

ClinVar ID:

CV168875

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KCNJ11 LOC127820555

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	11	17,409,176
GRCh38	11	17,387,629

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_012446.1:g.6031G>A NC_000011.10:g.17387629C>T NC_000011.9:g.17409176C>T NP_000516.3:p.Val155Met More...	04/13/2020	missense variant	uncertain significance	Diabetes mellitus (disease); Diabetes mellitus, noninsulin-dependent, late onset; Diabetes mellitus, permanent neonatal 2; Diabetes mellitus, transient neonatal, 3; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Hyperinsulinemic hypoglycemia, familial, 2; HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, NEONATAL; Mason type diabetes; Maturity-onset diabetes of the young type 13; MODY, TYPE 13; none provided; Permanent diabetes mellitus of infancy; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Type 2 diabetes mellitus; Type II diabetes mellitus

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV168875	Human	diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Diabetes mellitus	ClinVar	PMID:18414213\|PMID:25741868\|PMID:28492532\|PMID:32027066
CV168875	Human	maturity-onset diabetes of the young		IAGP		8554872	ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young	ClinVar	PMID:18414213\|PMID:25741868\|PMID:28492532\|PMID:32027066
CV168875	Human	permanent neonatal diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus	ClinVar	PMID:18414213\|PMID:25741868\|PMID:28492532\|PMID:32027066
CV168875	Human	Transient Neonatal Diabetes Mellitus, 3		IAGP		8554872	ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3	ClinVar	PMID:18414213\|PMID:25741868\|PMID:28492532\|PMID:32027066

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV168875	Human	Diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Diabetes mellitus	ClinVar	PMID:18414213\|PMID:25741868\|PMID:28492532\|PMID:32027066
CV168875	Human	Type II diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Type II diabetes mellitus	ClinVar	PMID:18414213\|PMID:25741868\|PMID:28492532\|PMID:32027066

Gene Symbol:	KCNJ11
Accession:	NM_001166290
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIMGLMINAIMLGCI FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:	KCNJ11
Accession:	NM_000525
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	155

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFL CSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIMGLMIN AIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVA EEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:	KCNJ11
Accession:	NM_001377297
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIMGLMINAIMLGCI FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:	KCNJ11
Accession:	NM_001377296
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIMGLMINAIMLGCI FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

ClinVar GRCh37	ClinVar GRCh38

PMID:18414213	PMID:25741868	PMID:28492532	PMID:32027066

Database	Acc Id	Source(s)
ClinVar	RCV000146106	CLINVAR
	RCV000665154	CLINVAR
	RCV001277850	CLINVAR
	RCV002227074	CLINVAR
	RCV002483282	CLINVAR
	RCV002514817	CLINVAR
dbSNP (RS)	rs587783668	CLINVAR
MedGen	C0011849	CLINVAR
	C0342276	CLINVAR
	C1833104	CLINVAR
	C1864623	CLINVAR
	C3661900	CLINVAR
NCBI Gene	KCNJ11	CLINVAR
OMIM	125853	CLINVAR
	600937	CLINVAR
	601820	CLINVAR
	606176	CLINVAR
	606391	CLINVAR
	610582	CLINVAR
	616329	CLINVAR
	618856	CLINVAR
SNOMED CT	28453007	CLINVAR
	44054006	CLINVAR
	73211009	CLINVAR