RGD:401746042 Rat Genome Database

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Variant: RGD:401746042 -  Homo sapiens

RGD ID: 401746042
ClinVar ID: CV2694780
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127814884  PABIR1  PIP5K1B  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 71,395,112
GRCh38 9 68,780,196
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.68780196A>G
NC_000009.11:g.71395112A>G
NM_138333.3:c.32A>G
NP_612206.5:p.Glu11Gly
More... 		03/21/2023 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PIP5K1B
Accession:XM_011519084
Location:5UTRS;INTRON

Gene Symbol:PIP5K1B
Accession:XM_047423952
Location:5UTRS;INTRON

Gene Symbol:PIP5K1B
Accession:NM_003558
Location:5UTRS;INTRON

Gene Symbol:PIP5K1B
Accession:NM_001278253
Location:5UTRS;INTRON

Gene Symbol:PIP5K1B
Accession:XM_017015188
Location:5UTRS;INTRON

Gene Symbol:PIP5K1B
Accession:NM_001376037
Location:5UTRS;INTRON

Gene Symbol:PIP5K1B
Accession:NM_001376041
Location:5UTRS;INTRON

Gene Symbol:PIP5K1B
Accession:NM_001376039
Location:5UTRS;INTRON

Gene Symbol:PIP5K1B
Accession:XM_011519082
Location:5UTRS;INTRON

Gene Symbol:PIP5K1B
Accession:NM_001376040
Location:5UTRS;INTRON

Gene Symbol:PIP5K1B
Accession:XM_017015189
Location:5UTRS;INTRON

Gene Symbol:PIP5K1B
Accession:NM_001376036
Location:5UTRS;INTRON

Gene Symbol:PIP5K1B
Accession:XM_005252262
Location:5UTRS;INTRON

Gene Symbol:PIP5K1B
Accession:XM_047423951
Location:5UTRS;INTRON

Gene Symbol:PABIR1
Accession:NM_138333
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQEKMELDLGLPPGTGGSPAEGGGSGGGGGLRRSNSAPLIHGLSDTSPVFQAEAPSARRNSTTFPSRHGLLLPASPVRM
HSSRLHQIKQEEGMDLINRETVHEREVQTAMQISHSWEESFSLSDNDVEKSASPKRIDFIPVSPAPSPTRGIGKQCFSPS
LQSFVSSNGLPPSPIPSPTTRFTTRRSQSPINCIRPSVLGPLKRKCEMETEYQPKRFFQGITNMLSSDVAQLSDPGVCVS
SDTLDGNSSSAGSSCNSPAKVSTTTDSPVSPAQAASPFIPLDELSSK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003241919 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene PABIR1 CLINVAR
  PIP5K1B CLINVAR
OMIM 602745 CLINVAR
  617249 CLINVAR