rs1211773372 Rat Genome Database

rs1211773372 Rat Genome Database

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Variant: rs1211773372 - Homo sapiens

RGD ID:

13489844

RS ID:

rs1211773372

ClinVar ID:

CV445868

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	17	6,590,913
GRCh38	17	6,687,594

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_1020:g.30829del NM_001284510.2:c.1382del NM_001143838.3:c.1438-1255del NM_001284509.2:c.1460del More...	07/15/2021	frameshift variant	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA; Epileptic encephalopathy, early infantile, 25; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV445868	Human	developmental and epileptic encephalopathy 25		IAGP		8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 25	ClinVar	PMID:25741868 more ...
CV445868	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 more ...

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532	PMID:31780880	PMID:33258288	PMID:37025451

Database	Acc Id	Source(s)
ClinVar	RCV000524016	CLINVAR
	RCV001344418	CLINVAR
	RCV004669020	CLINVAR
dbSNP (RS)	rs1211773372	CLINVAR
MedGen	C0950123	CLINVAR
	C3661900	CLINVAR
	C4014621	CLINVAR
NCBI Gene	SLC13A5	CLINVAR
OMIM	608305	CLINVAR
	615905	CLINVAR