RGD:155695052 Rat Genome Database

RGD:155695052 Rat Genome Database

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Variant: RGD:155695052 - Homo sapiens

RGD ID:

155695052

ClinVar ID:

CV1792441

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KCNJ11 LOC127820555

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	11	17,409,295
GRCh38	11	17,387,748

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_000525.4:c.344A>G NM_001166290.2:c.83A>G NM_001377296.1:c.83A>G NC_000011.10:g.17387748T>C More...	08/31/2021	missense 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; none provided; 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)
CV1792441	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868\|PMID:28492532
CV1792441	Human	Transient Neonatal Diabetes Mellitus, 3		IAGP		8554872	ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3	ClinVar	PMID:25741868\|PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1792441	Human	Type II diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Type II diabetes mellitus	ClinVar	PMID:25741868\|PMID:28492532

Gene Symbol:	KCNJ11
Accession:	NM_001166290
Location:	EXON
Amino Acid Prediction:	H to R (nonsynonymous)
Amino Acid Position:	28

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

Gene Symbol:	KCNJ11
Accession:	NM_000525
Location:	EXON
Amino Acid Prediction:	H to R (nonsynonymous)
Amino Acid Position:	115

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

Gene Symbol:	KCNJ11
Accession:	NM_001377297
Location:	EXON
Amino Acid Prediction:	H to R (nonsynonymous)
Amino Acid Position:	28

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

Gene Symbol:	KCNJ11
Accession:	NM_001377296
Location:	EXON
Amino Acid Prediction:	H to R (nonsynonymous)
Amino Acid Position:	28

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

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002460206	CLINVAR
	RCV003099491	CLINVAR
	RCV005042805	CLINVAR
MedGen	C0950123	CLINVAR
	C1864623	CLINVAR
	C3661900	CLINVAR
NCBI Gene	KCNJ11	CLINVAR
OMIM	125853	CLINVAR
	600937	CLINVAR
	601820	CLINVAR
	610582	CLINVAR
	616329	CLINVAR
	618856	CLINVAR
SNOMED CT	44054006	CLINVAR