RGD:15182589 Rat Genome Database

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Variant: RGD:15182589 -  Homo sapiens

RGD ID: 15182589
RS ID: rs778428449
ClinVar ID: CV780185
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLA1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 24,833,092
GRCh38 X 24,814,975
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016937.4:c.3279-4G>T
NM_001330360.2:c.3297-4G>T
NG_016798.1:g.126029G>T
NG_016798.2:g.126029G>T
More... 		06/30/2017 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:POLA1
Accession:XM_047442183
Location:INTRON

Gene Symbol:POLA1
Accession:NM_016937
Location:INTRON

Gene Symbol:POLA1
Accession:XM_017029594
Location:INTRON

Gene Symbol:POLA1
Accession:XM_017029596
Location:INTRON

Gene Symbol:POLA1
Accession:XM_047442182
Location:INTRON

Gene Symbol:POLA1
Accession:XM_024452392
Location:INTRON

Gene Symbol:POLA1
Accession:XM_017029595
Location:INTRON

Gene Symbol:POLA1
Accession:NM_001378303
Location:INTRON

Gene Symbol:POLA1
Accession:XM_047442180
Location:INTRON

Gene Symbol:POLA1
Accession:XM_011545540
Location:INTRON

Gene Symbol:POLA1
Accession:NM_001330360
Location:INTRON

Gene Symbol:POLA1
Accession:XM_011545541
Location:INTRON

Gene Symbol:POLA1
Accession:XM_047442181
Location:INTRON

Gene Symbol:POLA1
Accession:NR_165482
Location:INTRON;NON-CODING

Gene Symbol:POLA1
Accession:NR_165483
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000974668 CLINVAR
dbSNP (RS) rs778428449 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene POLA1 CLINVAR
OMIM 312040 CLINVAR