rs760065199 Rat Genome Database

rs760065199 Rat Genome Database

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Variant: rs760065199 - Homo sapiens

RGD ID:

15126223

RS ID:

rs760065199

ClinVar ID:

CV745464

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

NHS

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	X	17,705,857
GRCh38	X	17,687,737

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001136024.4:c.35-5T>C NM_001291868.2:c.35-5T>C NM_001291867.2:c.566-5T>C NM_198270.4:c.566-5T>C More...	01/10/2018	intron variant	benign\|likely benign	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)
CV745464	Human	Nance-Horan syndrome		IAGP		8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:28492532

Gene Symbol:	NHS
Accession:	NM_001291868
Location:	INTRON

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:	XM_047442140
Location:	INTRON

Gene Symbol:	NHS
Accession:	XM_011545528
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000896899	CLINVAR
	RCV005092660	CLINVAR
dbSNP (RS)	rs760065199	CLINVAR
MedGen	C0796085	CLINVAR
	C3661900	CLINVAR
NCBI Gene	NHS	CLINVAR
OMIM	300457	CLINVAR
	302350	CLINVAR
SNOMED CT	445257004	CLINVAR