RGD:156187469 Rat Genome Database

RGD:156187469 Rat Genome Database

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Variant: RGD:156187469 - Homo sapiens

RGD ID:

156187469

ClinVar ID:

CV2055939

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

MAF WWOX

Reference Nucleotide:

C

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	16	79,245,691
GRCh38	16	79,211,794

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001291997.2:c.903del NG_011698.1:g.1117140del NC_000016.9:g.79245690del NM_016373.4:c.1242del More...	06/12/2022	frameshift variant	uncertain significance	Autosomal recessive spinocerebellar ataxia 12; Epileptic encephalopathy, early infantile, 1; INFANTILE SPASM SYNDROME, X-LINKED 1; OHTAHARA SYNDROME, X-LINKED; SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY; Tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG; West's syndrome; X-Linked Infantile Spasm Syndrome; X-linked infantile spasms

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2055939	Human	developmental and epileptic encephalopathy 1		IAGP		8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	ClinVar	PMID:28492532

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002828502	CLINVAR
MedGen	C3463992	CLINVAR
NCBI Gene	MAF	CLINVAR
	WWOX	CLINVAR
OMIM	177075	CLINVAR
	308350	CLINVAR
	605131	CLINVAR
	614322	CLINVAR