rs758749160 Rat Genome Database

rs758749160 Rat Genome Database

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Variant: rs758749160 - Homo sapiens

RGD ID:

11643564

RS ID:

rs758749160

ClinVar ID:

CV272064

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KCNJ11 LOC127820554

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	11	17,408,546
GRCh38	11	17,386,999

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_012446.1:g.6661C>T NC_000011.10:g.17386999G>A NC_000011.9:g.17408546G>A NP_000516.3:p.Arg365Cys More...	08/22/2024	missense variant	uncertain significance	AllHighlyPenetrant; 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)
CV272064	Human	maturity-onset diabetes of the young		IAGP		8554872	ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young	ClinVar	PMID:15580558\|PMID:15718250\|PMID:22701567\|PMID:23275527\|PMID:25741868\|PMID:26448950\|PMID:28492532\|PMID:32935446
CV272064	Human	permanent neonatal diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus	ClinVar	PMID:15580558\|PMID:15718250\|PMID:22701567\|PMID:23275527\|PMID:25741868\|PMID:26448950\|PMID:28492532\|PMID:32935446
CV272064	Human	Transient Neonatal Diabetes Mellitus, 3		IAGP		8554872	ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3	ClinVar	PMID:15580558\|PMID:15718250\|PMID:22701567\|PMID:23275527\|PMID:25741868\|PMID:26448950\|PMID:28492532\|PMID:32935446

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV272064	Human	Type II diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Type II diabetes mellitus	ClinVar	PMID:15580558\|PMID:15718250\|PMID:22701567\|PMID:23275527\|PMID:25741868\|PMID:26448950\|PMID:28492532\|PMID:32935446

Gene Symbol:	KCNJ11
Accession:	NM_001166290
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	278

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASACGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:	KCNJ11
Accession:	NM_000525
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	365

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFL CSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMIN AIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVA EEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASACGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:	KCNJ11
Accession:	NM_001377297
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	278

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASACGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:	KCNJ11
Accession:	NM_001377296
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	278

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASACGPLRKRSVPMAKAKPKFSISPDSLS*

ClinVar GRCh37	ClinVar GRCh38

PMID:15580558	PMID:15718250	PMID:22701567	PMID:23275527	PMID:25741868	PMID:26448950	PMID:28492532	PMID:32935446

Database	Acc Id	Source(s)
ClinVar	RCV000396277	CLINVAR
	RCV000665094	CLINVAR
	RCV002226703	CLINVAR
	RCV005044544	CLINVAR
	RCV005238850	CLINVAR
dbSNP (RS)	rs758749160	CLINVAR
MedGen	C0342276	CLINVAR
	C1833104	CLINVAR
	C1864623	CLINVAR
	C3661900	CLINVAR
	CN169374	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