RGD:11603817 Rat Genome Database

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Variant: RGD:11603817 -  Homo sapiens

RGD ID: 11603817
RS ID: rs199831799
ClinVar ID: CV315063
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTF1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 23,481,561
GRCh38 10 23,192,632
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.5102C>T
NC_000010.11:g.23192632C>T
NC_000010.10:g.23481561C>T
NP_835455.1:p.Asp34=
More... 		08/22/2018 synonymous variant benign|likely benign|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: D to D (synonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAVLLEHFPGGLDAFPSSYFDEDDFFTDQSSRDPLEDGDELLADEQAEVEFLSHQLHEYCYRDGACLLLQPAPPAAPLA
LAPPSSGGLGEPDDGGGGGYCCETGAPPGGFPYSPGSPPSCLAYPCAGAAVLSPGARLRGLSGAAAAAARRRRRVRSEAE
LQQLRQAANVRERRRMQSINDAFEGLRSHIPTLPYEKRLSKVDTLRLAIGYINFLSELVQADLPLRGGGAGGCGGPGGGG
RLGGDSPGSQAQKVIICHRGTRSPSPSDPDYGLPPLAGHSLSWTDEKQLKEQNIIRTAKVWTPEDPRKLNSKSSFNNIEN
EPPFEFVS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000303502 CLINVAR
  RCV000921053 CLINVAR
dbSNP (RS) rs199831799 CLINVAR
MedGen C1836780 CLINVAR
  C3661900 CLINVAR
NCBI Gene PTF1A CLINVAR
OMIM 607194 CLINVAR
  609069 CLINVAR