RGD:11552538 Rat Genome Database

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Variant: RGD:11552538 -  Homo sapiens

RGD ID: 11552538
RS ID: rs147692085
ClinVar ID: CV256104
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAFAH1B1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 2,569,296
GRCh38 17 2,666,002
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009799.1:g.77374T>C
NC_000017.11:g.2666002T>C
NC_000017.10:g.2569296T>C
NM_000430.3:c.118-14T>C
More... 		02/16/2018 intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:PAFAH1B1
Accession:XM_047436164
Location:5UTRS;INTRON

Gene Symbol:PAFAH1B1
Accession:XM_011523901
Location:INTRON

Gene Symbol:PAFAH1B1
Accession:XM_017024701
Location:INTRON

Gene Symbol:PAFAH1B1
Accession:XM_047436162
Location:INTRON

Gene Symbol:PAFAH1B1
Accession:XM_011523902
Location:INTRON

Gene Symbol:PAFAH1B1
Accession:XM_011523903
Location:INTRON

Gene Symbol:PAFAH1B1
Accession:XM_047436163
Location:INTRON

Gene Symbol:PAFAH1B1
Accession:XM_017024703
Location:INTRON

Gene Symbol:PAFAH1B1
Accession:NM_000430
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000254523 CLINVAR
  RCV001511533 CLINVAR
dbSNP (RS) rs147692085 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PAFAH1B1 CLINVAR
OMIM 601545 CLINVAR