rs2099887720 Rat Genome Database

rs2099887720 Rat Genome Database

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Variant: rs2099887720 - Homo sapiens

RGD ID:

126746541

RS ID:

rs2099887720

ClinVar ID:

CV1015420

Genic Status:

GENIC

Type:

insertion (SO:0000667)

Associated Genes:

Reference Nucleotide:

-

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	5	140,908,052
GRCh38	5	141,528,485

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View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_1117t1:c.3089dup LRG_1117t2:c.3116dup NM_001079812.3:c.3089dup NM_005219.5:c.3116dup More...		frameshift variant	likely pathogenic	neonatal seizures

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1015420	Human	benign neonatal seizures		IAGP		8554872	ClinVar Annotator: match by term: Neonatal seizure	ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1015420	Human	Neonatal seizure		IAGP		8554872	ClinVar Annotator: match by term: Neonatal seizure	ClinVar

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV001328493	CLINVAR
dbSNP (RS)	rs2099887720	CLINVAR
MedGen	C0159020	CLINVAR
NCBI Gene	DIAPH1	CLINVAR
OMIM	602121	CLINVAR