RGD:8571008 Rat Genome Database

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Variant: RGD:8571008 -  Homo sapiens

RGD ID: 8571008
RS ID: rs267606548
ClinVar ID: CV49596
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 67,256,766
GRCh38 11 67,489,295
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_460t1:c.308A>G
LRG_460:g.11262A>G
NG_008969.1:g.11262A>G
NC_000011.10:g.67489295A>G
More... 		09/11/2020 2kb upstream variant|missense|missense variant likely pathogenic|uncertain significance|not provided 1-9 / 1 000 000|1-9 / 100 000 ACROMEGALY DUE TO PITUITARY ADENOMA 1; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; ISOLATED FAMILIAL SOMATOTROPINOMA; Neoplastic Syndromes, Hereditary; none provided; PITUITARY ADENOMA 1, MULTIPLE TYPES; Pituitary adenoma, growth hormone-secreting; Pituitary tumor, growth hormone-secreting, somatic; SOMATOTROPHINOMA, FAMILIAL; Tumor predisposition
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 R (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELIIGKKFKLPVWETIVCTMREGEIAQFLCDIKHVVLYPLVARSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLD
ALQQNPQPLIFHMEMLKVESPGTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPG
SPEWIQLDQQITPLLLNYCQCKLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALA
PVVSRELRALEARIRQKDEEDKARFRGIFSH*

Gene Symbol:AIP
Accession:NM_003977
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADIIARLREDGIQKRVIQEGRGELPDFQDGTKATFHYRTLHSDDEGTVLDDSRARGKPMELIIGKKFKLPVWETIVCTM
REGEIAQFLCDIKHVVLYPLVARSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESP
GTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALAPVVSRELRALEARIRQKDEED
KARFRGIFSH*

Gene Symbol:AIP
Accession:NM_001302960
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADIIARLREDGIQKRVIQEGRGELPDFQDGTKATFHYRTLHSDDEGTVLDDSRARGKPMELIIGKKFKLPVWETIVCTM
REGEIAQFLCDIKHVVLYPLVARSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESP
GTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKQRQGLLQAGQGPRGRVECPGGPG*
Variant Samples
Additional References at PubMed
PMID:20506337   PMID:20507346   PMID:21348957   PMID:21454441   PMID:22720333   PMID:23371967   PMID:25614825   PMID:27267386   PMID:28255869   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000034073 CLINVAR
  RCV001018537 CLINVAR
  RCV001214294 CLINVAR
dbSNP (RS) rs267606548 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
  C4538355 CLINVAR
NCBI Gene AIP CLINVAR
OMIM 102200 CLINVAR
  605555 CLINVAR
SNOMED CT 254957009 CLINVAR
  699346009 CLINVAR