RGD:150508053 Rat Genome Database

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Variant: RGD:150508053 -  Homo sapiens

RGD ID: 150508053
RS ID: rs41311503
ClinVar ID: CV1244723
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHKA2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 18,923,754
GRCh38 X 18,905,636
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000292.3:c.2908+122T>C
NG_016622.1:g.83727T>C
NC_000023.11:g.18905636A>G
NC_000023.10:g.18923754A>G
 01/15/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PHKA2
Accession:XM_011545537
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_047442164
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_047442163
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_006724496
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_047442166
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_005274548
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_011545538
Location:INTRON

Gene Symbol:PHKA2
Accession:NM_000292
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_005274550
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_017029580
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_047442165
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 Information

Database Acc Id Source(s)
ClinVar RCV001658972 CLINVAR
dbSNP (RS) rs41311503 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PHKA2 CLINVAR
OMIM 300798 CLINVAR