RGD:11600316 Rat Genome Database

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Variant: RGD:11600316 -  Homo sapiens

RGD ID: 11600316
RS ID: rs569569636
ClinVar ID: CV310050
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTF1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 23,481,722
GRCh38 10 23,192,793
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009798.1:g.5263G>A
NC_000010.11:g.23192793G>A
NC_000010.10:g.23481722G>A
NP_835455.1:p.Gly88Asp
More... 		06/14/2016 missense variant uncertain significance Diabetes mellitus, permanent neonatal, with cerebellar agenesis; none provided; PANCREATIC AND CEREBELLAR AGENESIS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PTF1A
Accession:NM_178161
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAVLLEHFPGGLDAFPSSYFDEDDFFTDQSSRDPLEDGDELLADEQAEVEFLSHQLHEYCYRDGACLLLQPAPPAAPLA
LAPPSSGDLGEPDDGGGGGYCCETGAPPGGFPYSPGSPPSCLAYPCAGAAVLSPGARLRGLSGAAAAAARRRRRVRSEAE
LQQLRQAANVRERRRMQSINDAFEGLRSHIPTLPYEKRLSKVDTLRLAIGYINFLSELVQADLPLRGGGAGGCGGPGGGG
RLGGDSPGSQAQKVIICHRGTRSPSPSDPDYGLPPLAGHSLSWTDEKQLKEQNIIRTAKVWTPEDPRKLNSKSSFNNIEN
EPPFEFVS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000273000 CLINVAR
  RCV002520571 CLINVAR
  RCV002520572 CLINVAR
dbSNP (RS) rs569569636 CLINVAR
MedGen C0950123 CLINVAR
  C1836780 CLINVAR
  C3661900 CLINVAR
NCBI Gene PTF1A CLINVAR
OMIM 607194 CLINVAR
  609069 CLINVAR