rs559642468 Rat Genome Database

rs559642468 Rat Genome Database

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Variant: rs559642468 - Homo sapiens

RGD ID:

28909842

RS ID:

rs559642468

ClinVar ID:

CV896400

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

POLH

Reference Nucleotide:

T

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	6	43,582,575
GRCh38	6	43,614,838

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_009252.1:g.43698T>G NC_000006.12:g.43614838T>G NC_000006.11:g.43582575T>G NM_006502.2:c.*281T>G More...	01/12/2018	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)
CV896400	Human	xeroderma pigmentosum variant type		IAGP		8554872	ClinVar Annotator: match by term: Xeroderma pigmentosum variant type	ClinVar

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

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

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

Gene Symbol:	POLH
Accession:	NM_006502
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	RCV001160917	CLINVAR
dbSNP (RS)	rs559642468	CLINVAR
MedGen	C1848410	CLINVAR
NCBI Gene	POLH	CLINVAR
OMIM	278750	CLINVAR
	603968	CLINVAR