rs2051864063 Rat Genome Database

rs2051864063 Rat Genome Database

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Variant: rs2051864063 - Homo sapiens

RGD ID:

40814485

RS ID:

rs2051864063

ClinVar ID:

CV969464

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

Reference Nucleotide:

TCGTAGC

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	X	71,787,819 - 71,787,826
GRCh38	X	72,567,969 - 72,567,976

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001166418.2:c.164+4083_164+4089del NM_001166420.2:c.352_358del NG_015851.1:g.10130_10136del NC_000023.11:g.72567968_72567974del More...	09/10/2020	frameshift variant	pathogenic	Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV969464	Human	intellectual disability		IAGP		8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV969464	Human	Intellectual disability		IAGP		8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV001260722	CLINVAR
dbSNP (RS)	rs2051864063	CLINVAR
MedGen	C3714756	CLINVAR
NCBI Gene	HDAC8	CLINVAR
OMIM	300269	CLINVAR
SNOMED CT	228156007	CLINVAR