RGD:11550974 Rat Genome Database

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Variant: RGD:11550974 -  Homo sapiens

RGD ID: 11550974
RS ID: rs201339926
ClinVar ID: CV257795
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHKA2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 18,919,555
GRCh38 X 18,901,437
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016622.1:g.87926C>A
NC_000023.11:g.18901437G>T
NC_000023.10:g.18919555G>T
NM_000292.3:c.3027+48C>A
More... 		intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PHKA2
Accession:NM_000292
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_005274548
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_006724496
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_017029580
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_011545538
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_047442166
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_005274550
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_047442165
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_047442163
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_047442164
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_011545537
Location:INTRON

Gene Symbol:PHKA2
Accession:XR_001755697
Location:INTRON;NON-CODING

Gene Symbol:PHKA2
Accession:XR_950461
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000252445 CLINVAR
dbSNP (RS) rs201339926 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PHKA2 CLINVAR
OMIM 300798 CLINVAR