RGD:156021511 Rat Genome Database

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Variant: RGD:156021511 -  Homo sapiens

RGD ID: 156021511
ClinVar ID: CV2148145
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHKA2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 18,969,405
GRCh38 X 18,951,287
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.286-15T>A
NG_016622.1:g.38076T>A
NC_000023.11:g.18951287A>T
NC_000023.10:g.18969405A>T
 01/22/2022 intron variant likely benign Glycogen storage disease 8; Glycogenosis type 8; GSD VIII; Hepatic phosphorylase kinase deficiency; LIVER GLYCOGENOSIS, X-LINKED, TYPE I; Phosphorylase kinase deficiency of liver
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:PHKA2
Accession:XM_047442164
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_011545537
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_006724496
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_047442165
Location:INTRON

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_047442163
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_017029580
Location:INTRON

Gene Symbol:PHKA2
Accession:XM_011545538
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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003018252 CLINVAR
MedGen C3694531 CLINVAR
NCBI Gene PHKA2 CLINVAR
OMIM 300798 CLINVAR
  306000 CLINVAR