rs1564031661 Rat Genome Database

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Variant: rs1564031661 - Homo sapiens

RGD ID:

13812651

RS ID:

rs1564031661

ClinVar ID:

CV564355

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

GABBR2

Reference Nucleotide:

CTTACCTCCATGCTGTACTTCTCCACTGTCCTTCGCAGGGGGTCCACAGCCTGCCAGCAGATCAGGATACACAGGTCGATCAGCAGCATGCCCCCCACGATCACAAGCAGTTTCTGGTCCTTGATGATCTACAGAGCGGGAAGGAGCAGAGGGGAGCCGATGTGAGAGACAGCTTCCCACGCAGCAACTGGGGGCCCAGGTCATAGGGGGAACCTGCATCATGAACCCCCCAGCCGGAGAGTCTCCTGCGATTCCCCATCACCCACAGGATAAATCCAGCCAAGCTCCTCTGTGTGACATTCAAGGCCTTTCACAAGCTTGACCTTATCACTCCCCAAACACATATGTGCATTTTGTTGAAGTTTGGCCACTCCTAGTCCCTGGCCGAGCTGTGATTTTCACCCTCCAGGTCTCTGTAGGTGCTAGTTCTTTTGTCTGGAATACCCTATTCTTTCTATTTGGCAAACTTCTAATAATCCTTAAACATCTCGATCAATTGTCACCTCCTCCATGAAGTCCTCTCTAACTCCTGCAGCACAACTAATTACTCCATAGCGCTTTGTCCACATACTTAATTATCAGGAGGAACCACAGTAGTAACAACAATGAGAGGAATAGCTAACATTTAATGAACACTTACTCTGTGCCTGCCTCTAGGTTGATGGTTTCAGAGGCAGTGTCTCATATAAAAGCAAATATTGTTATTATTCTTATTTTATGGATGAGCAAACTGAGGCTTAAAAGGGCTAAGTAACTTGCTCAATATAATAAACTTAATAAGAGATGAAGCCTGGATTTGGACCGAGATCTGTTTTCTCCAGAATTCACATCCTCAAACATTTAC

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	9	101,124,993 - 101,125,837
GRCh38	9	98,362,711 - 98,363,555

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_005458.8:c.1771-716_1893+5del NG_016426.1:g.350645_351488del NC_000009.12:g.98362710_98363553del NC_000009.11:g.101124992_101125835del NM_005458.7:c.1771-716_1893+5del More...	11/27/2019	splice acceptor variant	likely benign\|uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV564355	Human	generalized epilepsy		IAGP		8554872	ClinVar Annotator: match by term: Epileptic encephalopathy	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV564355	Human	Epileptic encephalopathy		IAGP		8554872	ClinVar Annotator: match by term: Epileptic encephalopathy	ClinVar	PMID:28492532

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000689592	CLINVAR
dbSNP (RS)	rs1564031661	CLINVAR
MedGen	C0543888	CLINVAR
NCBI Gene	GABBR2	CLINVAR
OMIM	607340	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


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Variant: rs1564031661 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: rs1564031661 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar