RGD:126733036 Rat Genome Database

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Variant: RGD:126733036 -  Homo sapiens

RGD ID: 126733036
ClinVar ID: CV1020922
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIP  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 67,254,658
GRCh38 11 67,487,187
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003977.4:c.279+2T>C
LRG_460:g.9154T>C
NG_008969.1:g.9154T>C
NC_000011.10:g.67487187T>C
More... 		06/29/2018 splice donor variant pathogenic 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

Variant Details
Variant Transcripts
Gene Symbol:AIP
Accession:NM_003977
Location:INTRON

Gene Symbol:AIP
Accession:NM_001302960
Location:INTRON

Gene Symbol:AIP
Accession:NM_001302959
Location:INTRON

Variant Samples