RGD:8571025 Rat Genome Database

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Variant: RGD:8571025 -  Homo sapiens

RGD ID: 8571025
RS ID: rs267606563
ClinVar ID: CV49613
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIP  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 67,257,641
GRCh38 11 67,490,170
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NM_003977.2:c.601A>T
NP_003968.3:p.Lys201Ter
LRG_460t1:c.601A>T
LRG_460:g.12137A>T
More... 		06/21/2012 2kb upstream variant|nonsense|stop-gain likely pathogenic|not provided 1-9 / 1 000 000|1-9 / 100 000 ACROMEGALY DUE TO PITUITARY ADENOMA 1; ISOLATED FAMILIAL SOMATOTROPINOMA; PITUITARY ADENOMA 1, MULTIPLE TYPES; Pituitary adenoma, growth hormone-secreting; Pituitary tumor, growth hormone-secreting, somatic; SOMATOTROPHINOMA, FAMILIAL
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AIP
Accession:NM_001302959
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELIIGKKFKLPVWETIVCTMREGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLD
ALQQNPQPLIFHMEMLKVESPGTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAA*YYDAIACLKNLQMKEQPG
SPEWIQLDQQITPLLLNYCQCKLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALA
PVVSRELRALEARIRQKDEEDKARFRGIFSH*

Gene Symbol:AIP
Accession:NM_003977
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADIIARLREDGIQKRVIQEGRGELPDFQDGTKATFHYRTLHSDDEGTVLDDSRARGKPMELIIGKKFKLPVWETIVCTM
REGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESP
GTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAA*YYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALAPVVSRELRALEARIRQKDEED
KARFRGIFSH*

Gene Symbol:AIP
Accession:NM_001302960
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADIIARLREDGIQKRVIQEGRGELPDFQDGTKATFHYRTLHSDDEGTVLDDSRARGKPMELIIGKKFKLPVWETIVCTM
REGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESP
GTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAA*YYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKQRQGLLQAGQGPRGRVECPGGPG*
Variant Samples
Additional References at PubMed
PMID:22720333  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000034090 CLINVAR
dbSNP (RS) rs267606563 CLINVAR
MedGen C4538355 CLINVAR
NCBI Gene AIP CLINVAR
OMIM 102200 CLINVAR
  605555 CLINVAR
SNOMED CT 254957009 CLINVAR