rs1697197599 Rat Genome Database

rs1697197599 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: rs1697197599 - Homo sapiens

RGD ID:

38482973

RS ID:

rs1697197599

ClinVar ID:

CV931683

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

SLC6A1 SLC6A1-AS1

Reference Nucleotide:

A

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	3	11,059,094
GRCh38	3	11,017,408

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001348251.2:c.-123+149del NM_001348252.2:c.-165+149del NM_001348253.2:c.-165+149del NM_001348250.2:c.197del More...	09/30/2019	frameshift variant	pathogenic	Generalized myoclonic-atonic seizure

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV931683	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25865495 and PMID:28492532
CV931683	Human	myoclonic-atonic epilepsy		IAGP		8554872	ClinVar Annotator: match by term: Myoclonic-atonic epilepsy	ClinVar	PMID:25865495 and PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV931683	Human	Generalized myoclonic-atonic seizure		IAGP		8554872	ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure	ClinVar	PMID:25865495 and PMID:28492532

ClinVar GRCh37	ClinVar GRCh38

PMID:25865495	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV004963193	CLINVAR
	RCV005057095	CLINVAR
dbSNP (RS)	rs1697197599	CLINVAR
MedGen	C0393702	CLINVAR
	C0950123	CLINVAR
NCBI Gene	SLC6A1	CLINVAR
	SLC6A1-AS1	CLINVAR
OMIM	137165	CLINVAR
	616421	CLINVAR