RGD:401935060 Rat Genome Database

RGD:401935060 Rat Genome Database

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Variant: RGD:401935060 - Homo sapiens

RGD ID:

401935060

ClinVar ID:

CV2798345

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KCNJ11 LOC127820555

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	11	17,409,002
GRCh38	11	17,387,455

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001166290.2:c.376G>A NM_001377296.1:c.376G>A NM_001377297.1:c.376G>A NM_000525.4:c.637G>A More...	04/02/2023	missense variant	likely pathogenic\|uncertain significance	Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; KCNJ11-related condition; KCNJ11-Related Disorders; Type II diabetes mellitus

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2798345	Human	maturity-onset diabetes of the young type 1		IAGP		8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar	PMID:25741868
CV2798345	Human	type 2 diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Type II diabetes mellitus	ClinVar	PMID:25741868

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2798345	Human	Type II diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Type II diabetes mellitus	ClinVar	PMID:25741868

Gene Symbol:	KCNJ11
Accession:	NM_001166290
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	126

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISTTIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:	KCNJ11
Accession:	NM_000525
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	213

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFL CSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMIN AIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISTTIHMQVVRKTTSPEGEVVPLHQVDIPM ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVA EEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:	KCNJ11
Accession:	NM_001377297
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	126

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISTTIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:	KCNJ11
Accession:	NM_001377296
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	126

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISTTIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV003459856	CLINVAR
	RCV004539024	CLINVAR
MedGen	C0011860	CLINVAR
NCBI Gene	KCNJ11	CLINVAR
OMIM	125853	CLINVAR
	600937	CLINVAR
SNOMED CT	44054006	CLINVAR