RGD:13529649 Rat Genome Database

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Variant: RGD:13529649 -  Homo sapiens

RGD ID: 13529649
RS ID: rs1556013935
ClinVar ID: CV508132
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHKA2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 18,966,851
GRCh38 X 18,948,733
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.10:g.18966851T>G
NC_000023.11:g.18948733T>G
NM_000292.3:c.537+11A>C
NM_000292.2:c.537+11A>C
More... 		01/18/2018 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PHKA2
Accession:XM_047442166
Location:5UTRS;INTRON

Gene Symbol:PHKA2
Accession:NM_000292
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_011545537
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_047442165
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_005274550
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_047442164
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_047442163
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_005274548
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_006724496
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_011545538
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_017029580
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 RCV000600389 CLINVAR
dbSNP (RS) rs1556013935 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PHKA2 CLINVAR
OMIM 300798 CLINVAR