rs587781873 Rat Genome Database

rs587781873 Rat Genome Database

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Variant: rs587781873 - Homo sapiens

RGD ID:

8697217

RS ID:

rs587781873

ClinVar ID:

CV151321

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	11	94,204,930
GRCh38	11	94,471,764

JBrowse:

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_85t1:c.660-5T>G LRG_85:g.27111T>G NG_007261.1:g.27111T>G NC_000011.10:g.94471764A>C More...	04/19/2023	intron variant	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV151321	Human	Ataxia Telangiectasia Like Disorder		IAGP		8554872	ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder	ClinVar	PMID:25741868 and PMID:28492532
CV151321	Human	ataxia-telangiectasia-like disorder-1		IAGP		8554872	ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1	ClinVar	PMID:25741868 and PMID:28492532
CV151321	Human	Hereditary Neoplastic Syndromes		IAGP		8554872	ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	ClinVar	PMID:25741868 and PMID:28492532

Gene Symbol:	MRE11
Accession:	XM_047426968
Location:	5UTRS;INTRON

Gene Symbol:	MRE11
Accession:	NM_005591
Location:	INTRON

Gene Symbol:	MRE11
Accession:	XM_047426967
Location:	INTRON

Gene Symbol:	MRE11
Accession:	XM_006718842
Location:	INTRON

Gene Symbol:	MRE11
Accession:	NM_001330347
Location:	INTRON

Gene Symbol:	MRE11
Accession:	XM_005274008
Location:	INTRON

Gene Symbol:	MRE11
Accession:	XM_017017772
Location:	INTRON

Gene Symbol:	MRE11
Accession:	NM_005590
Location:	INTRON

Gene Symbol:	MRE11
Accession:	XM_011542837
Location:	INTRON

Gene Symbol:	MRE11
Accession:	XR_947828
Location:	INTRON;NON-CODING

Gene Symbol:	MRE11
Accession:	XR_007062484
Location:	INTRON;NON-CODING

Gene Symbol:	MRE11
Accession:	XR_007062483
Location:	INTRON;NON-CODING

Gene Symbol:	MRE11
Accession:	XR_007062482
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000130199	CLINVAR
	RCV000859008	CLINVAR
	RCV005003488	CLINVAR
dbSNP (RS)	rs587781873	CLINVAR
MedGen	C0027672	CLINVAR
	C1858391	CLINVAR
	C4012790	CLINVAR
NCBI Gene	MRE11A	CLINVAR
OMIM	600814	CLINVAR
	604391	CLINVAR
SNOMED CT	699346009	CLINVAR