rs12757197 Rat Genome Database

rs12757197 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: rs12757197 - Homo sapiens

RGD ID:

11632480

RS ID:

rs12757197

ClinVar ID:

CV281275

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

TBCE

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	1	235,590,559
GRCh38	1	235,427,244

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Trait Synonyms
NG_009230.1:g.64832G>A NC_000001.11:g.235427244G>A NC_000001.10:g.235590559G>A NM_003193.3:c.560+5G>A More...	12/04/2020	intron variant	benign	infancy	HRD syndrome; Hypoparathyroidism with short stature, mental retardation and seizures; Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Sanjad-Sakati syndrome

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV281275	Human	hypoparathyroidism-retardation-dysmorphism syndrome		IAGP		8554872	ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome	ClinVar	PMID:25741868 and PMID:28492532

Gene Symbol:	TBCE
Accession:	NM_003193
Location:	INTRON

Gene Symbol:	TBCE
Accession:	NM_001079515
Location:	INTRON

Gene Symbol:	TBCE
Accession:	NM_001287802
Location:	INTRON

Gene Symbol:	TBCE
Accession:	NM_001287801
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000259893	CLINVAR
	RCV001517610	CLINVAR
dbSNP (RS)	rs12757197	CLINVAR
MedGen	C1855840	CLINVAR
	C3661900	CLINVAR
NCBI Gene	TBCE	CLINVAR
OMIM	241410	CLINVAR
	604934	CLINVAR