rs1064795101 Rat Genome Database

rs1064795101 Rat Genome Database

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Variant: rs1064795101 - Homo sapiens

RGD ID:

12894544

RS ID:

rs1064795101

ClinVar ID:

CV411208

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

NHS

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	X	17,394,450
GRCh38	X	17,376,327

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_011553.2:g.5908G>A NC_000023.11:g.17376327G>A NC_000023.10:g.17394450G>A NM_198270.2:c.565+5G>A More...	05/27/2022	intron variant	likely pathogenic\|uncertain significance	Cataract dental syndrome; Cataract X-linked with Hutchinsonian teeth; Mesiodens cataract syndrome; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV411208	Human	Nance-Horan syndrome		IAGP		8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:17576681\|PMID:28492532\|PMID:9536098

Gene Symbol:	NHS
Accession:	NM_198270
Location:	INTRON

Gene Symbol:	NHS
Accession:	NM_001136024
Location:	INTRON

Gene Symbol:	NHS
Accession:	NM_001291867
Location:	INTRON

Gene Symbol:	NHS
Accession:	NM_001291868
Location:	INTRON

Gene Symbol:	NHS
Accession:	XM_011545528
Location:	INTRON

Gene Symbol:	NHS
Accession:	XM_047442140
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:9536098	PMID:17576681	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000483234	CLINVAR
	RCV002526598	CLINVAR
dbSNP (RS)	rs1064795101	CLINVAR
MedGen	C0796085	CLINVAR
	C3661900	CLINVAR
NCBI Gene	NHS	CLINVAR
OMIM	300457	CLINVAR
	302350	CLINVAR
SNOMED CT	445257004	CLINVAR