RGD:155677944 Rat Genome Database

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Variant: RGD:155677944 -  Homo sapiens

RGD ID: 155677944
ClinVar ID: CV1826263
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIP  LOC130006206  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 67,254,511
GRCh38 11 67,487,040
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_460t1:c.134A>T
LRG_460:g.9007A>T
NM_001302959.2:c.-44A>T
NM_001302960.2:c.134A>T
More... 		02/01/2024 5 prime utr variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AIP
Accession:NM_001302959
Location:5UTRS;EXON

Gene Symbol:AIP
Accession:NM_003977
Location:EXON
Amino Acid Prediction: D to V (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADIIARLREDGIQKRVIQEGRGELPDFQDGTKATFHYRTLHSDVEGTVLDDSRARGKPMELIIGKKFKLPVWETIVCTM
REGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESP
GTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALAPVVSRELRALEARIRQKDEED
KARFRGIFSH*

Gene Symbol:AIP
Accession:NM_001302960
Location:EXON
Amino Acid Prediction: D to V (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADIIARLREDGIQKRVIQEGRGELPDFQDGTKATFHYRTLHSDVEGTVLDDSRARGKPMELIIGKKFKLPVWETIVCTM
REGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESP
GTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKQRQGLLQAGQGPRGRVECPGGPG*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002387909 CLINVAR
  RCV003108070 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
NCBI Gene AIP CLINVAR
  LOC130006206 CLINVAR
OMIM 605555 CLINVAR
SNOMED CT 699346009 CLINVAR