rs80356613 Rat Genome Database

rs80356613 Rat Genome Database

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Variant: rs80356613 - Homo sapiens

RGD ID:

8560641

RS ID:

rs80356613

ClinVar ID:

CV23720

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	11	17,409,482
GRCh38	11	17,387,935

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_012446.1:g.5725G>A NC_000011.10:g.17387935C>T NC_000011.9:g.17409482C>T NP_000516.3:p.Gly53Ser More...	04/20/2015	intron variant\|missense\|missense variant	pathogenic\|likely pathogenic\|uncertain significance	antenatal	1-9 / 1 000 000	Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Mason type diabetes; Transient neonatal diabetes mellitus; Type II diabetes mellitus

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV23720	Human	maturity-onset diabetes of the young		IAGP		8554872	ClinVar Annotator: match by term: Mason type diabetes	ClinVar	PMID:15580558\|PMID:15718250\|PMID:20301620\|PMID:22701567\|PMID:26448950\|PMID:32935446\|PMID:34566892
CV23720	Human	maturity-onset diabetes of the young type 1		IAGP		8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar	PMID:15580558\|PMID:15718250\|PMID:20301620\|PMID:22701567\|PMID:26448950\|PMID:32935446\|PMID:34566892
CV23720	Human	transient neonatal diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Transient neonatal diabetes mellitus	ClinVar	PMID:15580558\|PMID:15718250\|PMID:20301620\|PMID:22701567\|PMID:26448950\|PMID:32935446\|PMID:34566892
CV23720	Human	Transient Neonatal Diabetes Mellitus, 3		IAGP		8554872	ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3	ClinVar	PMID:15580558\|PMID:15718250\|PMID:20301620\|PMID:22701567\|PMID:26448950\|PMID:32935446\|PMID:34566892
CV23720	Human	type 2 diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar	PMID:15580558\|PMID:15718250\|PMID:20301620\|PMID:22701567\|PMID:26448950\|PMID:32935446\|PMID:34566892

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV23720	Human	Transient neonatal diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Transient neonatal diabetes mellitus	ClinVar	PMID:15580558\|PMID:15718250\|PMID:20301620\|PMID:22701567\|PMID:26448950\|PMID:32935446\|PMID:34566892
CV23720	Human	Type II diabetes mellitus		IAGP		8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar	PMID:15580558\|PMID:15718250\|PMID:20301620\|PMID:22701567\|PMID:26448950\|PMID:32935446\|PMID:34566892

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

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:	G to S (nonsynonymous)
Amino Acid Position:	53

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

ClinVar GRCh37	ClinVar GRCh38

PMID:15580558	PMID:15718250	PMID:20301620	PMID:22701567	PMID:26448950	PMID:32935446	PMID:34566892

Database	Acc Id	Source(s)
ClinVar	RCV000009218	CLINVAR
	RCV002226644	CLINVAR
	RCV002250455	CLINVAR
	RCV002250456	CLINVAR
dbSNP (RS)	rs80356613	CLINVAR
MedGen	C0011860	CLINVAR
	C0342273	CLINVAR
	C0342276	CLINVAR
	C1864623	CLINVAR
NCBI Gene	KCNJ11	CLINVAR
OMIM	125853	CLINVAR
	600937	CLINVAR
	606391	CLINVAR
	610582	CLINVAR
OMIM Allele	600937.0017	CLINVAR
SNOMED CT	237603002	CLINVAR
	28453007	CLINVAR
	44054006	CLINVAR