rs577482466 Rat Genome Database

rs577482466 Rat Genome Database

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Variant: rs577482466 - Homo sapiens

RGD ID:

11600787

RS ID:

rs577482466

ClinVar ID:

CV307766

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

POLH

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	6	43,585,710
GRCh38	6	43,617,973

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_470t1:c.*3416G>C LRG_470:g.46833G>C NG_009252.1:g.46833G>C NC_000006.12:g.43617973G>C More...	01/13/2018	3 prime utr variant	uncertain significance	Photosensitivity with defective DNA synthesis; Xeroderma pigmentosum with normal DNA repair rates

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV307766	Human	xeroderma pigmentosum variant type		IAGP		8554872	ClinVar Annotator: match by term: Xeroderma pigmentosum variant type	ClinVar

Gene Symbol:	POLH
Accession:	NM_006502
Location:	3UTRS;EXON

Gene Symbol:	POLH
Accession:	NM_001291970
Location:	3UTRS;EXON

Gene Symbol:	POLH
Accession:	NM_001291969
Location:	3UTRS;EXON

Gene Symbol:	POLH
Accession:	XM_047418900
Location:	3UTRS;EXON

Gene Symbol:	POLR1C
Accession:	NM_203290
Location:	INTRON

Gene Symbol:	POLR1C
Accession:	NM_001318876
Location:	INTRON

Gene Symbol:	POLR1C
Accession:	NM_001363658
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV000276568	CLINVAR
dbSNP (RS)	rs577482466	CLINVAR
MedGen	C1848410	CLINVAR
NCBI Gene	POLH	CLINVAR
OMIM	278750	CLINVAR
	603968	CLINVAR