RGD:14722880 Rat Genome Database

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Variant: RGD:14722880 -  Homo sapiens

RGD ID: 14722880
RS ID: rs62068249
ClinVar ID: CV668938
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAFAH1B1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 2,584,946
GRCh38 17 2,681,652
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000430.4:c.1160-77G>A
NG_009799.1:g.93024G>A
NC_000017.11:g.2681652G>A
NC_000017.10:g.2584946G>A
More... 		06/19/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PAFAH1B1
Accession:XM_047436162
Location:INTRON

Gene Symbol:PAFAH1B1
Accession:XM_011523901
Location:INTRON

Gene Symbol:PAFAH1B1
Accession:XM_017024703
Location:INTRON

Gene Symbol:PAFAH1B1
Accession:XM_011523902
Location:INTRON

Gene Symbol:PAFAH1B1
Accession:XM_017024701
Location:INTRON

Gene Symbol:PAFAH1B1
Accession:NM_000430
Location:INTRON

Gene Symbol:PAFAH1B1
Accession:XM_047436163
Location:INTRON

Gene Symbol:PAFAH1B1
Accession:XM_011523903
Location:INTRON

Gene Symbol:PAFAH1B1
Accession:XM_047436164
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000832289 CLINVAR
dbSNP (RS) rs62068249 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PAFAH1B1 CLINVAR
OMIM 601545 CLINVAR