RGD:13538053 Rat Genome Database

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Variant: RGD:13538053 -  Homo sapiens

RGD ID: 13538053
RS ID: rs1556002229
ClinVar ID: CV508630
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHKA2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 18,942,255
GRCh38 X 18,924,137
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.65226T>C
NC_000023.11:g.18924137A>G
NC_000023.10:g.18942255A>G
NM_000292.3:c.1715-3T>C
More... 		01/12/2017 intron variant likely benign AllHighlyPenetrant

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

Gene Symbol:PHKA2
Accession:XM_005274550
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_005274548
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_006724496
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_011545537
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_011545538
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_017029580
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_047442165
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_047442164
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_047442163
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_047442166
Location:INTRON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000611276 CLINVAR
dbSNP (RS) rs1556002229 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PHKA2 CLINVAR
OMIM 300798 CLINVAR