RGD:13805935 Rat Genome Database

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Variant: RGD:13805935 -  Homo sapiens

RGD ID: 13805935
RS ID: rs1270523244
ClinVar ID: CV568095
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHKG2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 30,764,875
GRCh38 16 30,753,554
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.10:g.30753554C>T
NC_000016.9:g.30764875C>T
NG_016616.1:g.10256C>T
NP_000285.1:p.Arg185Ter
More... 		05/17/2018 nonsense pathogenic GSD IXc
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PHKG2
Accession:NM_001172432
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLDVGPEDELPDWAAAKEFYQKYDPKDVIGRGVSSVVRRCVHRATGHEFAVKIMEVTAERLSPEQLEEVREATRRETHI
LRQVAGHPHIITLIDSYESSSFMFLVFDLMRKGELFDYLTEKVALSEKETRSIMRSLLEAVSFLHANNIVHRDLKPENIL
LDDNMQIRLSDFGFSCHLEPGEKL*ELCGTPGYLAPEILKCSMDETHPGYGKEVDLWACGVILFTLLAGSPPFWHRRQIL
MLRMIMEGQYQFSSPEWDDRSSTVKDLISRLLQVDPEARLTAEQALQHPFFERCEGSQPWNLTPRQRFRVAVWTVLAAGR
VALSTHRVRPLTKNALLRDPYALRSVRHLIDNCAFRLYGHWIRKQWIGKLMACV*

Gene Symbol:PHKG2
Accession:NM_000294
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLDVGPEDELPDWAAAKEFYQKYDPKDVIGRGVSSVVRRCVHRATGHEFAVKIMEVTAERLSPEQLEEVREATRRETHI
LRQVAGHPHIITLIDSYESSSFMFLVFDLMRKGELFDYLTEKVALSEKETRSIMRSLLEAVSFLHANNIVHRDLKPENIL
LDDNMQIRLSDFGFSCHLEPGEKL*ELCGTPGYLAPEILKCSMDETHPGYGKEVDLWACGVILFTLLAGSPPFWHRRQIL
MLRMIMEGQYQFSSPEWDDRSSTVKDLISRLLQVDPEARLTAEQALQHPFFERCEGSQPWNLTPRQRFRVAVWTVLAAGR
VALSTHRVRPLTKNALLRDPYALRSVRHLIDNCAFRLYGHWVKKGEQQNRAALFQHRPPGPFPIMGPEEEGDSAAITEDE
AVLVLG*
Variant Samples
Additional References at PubMed
PMID:8896567   PMID:17689125   PMID:21646031   PMID:25741868   PMID:28492532   PMID:29360628  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000700365 CLINVAR
  RCV001250204 CLINVAR
dbSNP (RS) rs1270523244 CLINVAR
MedGen C2751643 CLINVAR
NCBI Gene PHKG2 CLINVAR
OMIM 172471 CLINVAR
  613027 CLINVAR