rs1419194904 Rat Genome Database

rs1419194904 Rat Genome Database

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Variant: rs1419194904 - Homo sapiens

RGD ID:

28909559

RS ID:

rs1419194904

ClinVar ID:

CV896371

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

POLH

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	6	43,543,930
GRCh38	6	43,576,193

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_470:g.5053G>C NG_051658.1:g.4883C>G NG_009252.1:g.5053G>C NC_000006.12:g.43576193G>C More...	01/12/2018	5 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)
CV896371	Human	xeroderma pigmentosum variant type		IAGP		8554872	ClinVar Annotator: match by term: Xeroderma pigmentosum variant type	ClinVar

Gene Symbol:	POLH
Accession:	NM_006502
Location:	5UTRS;EXON

Gene Symbol:	POLH
Accession:	NM_001291970
Location:	5UTRS;EXON

Gene Symbol:	POLH
Accession:	NM_001291969
Location:	5UTRS;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

Gene Symbol:	POLH
Accession:	XM_047418900
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV001160706	CLINVAR
dbSNP (RS)	rs1419194904	CLINVAR
MedGen	C1848410	CLINVAR
NCBI Gene	POLH	CLINVAR
OMIM	278750	CLINVAR
	603968	CLINVAR