RGD:8600036 Rat Genome Database

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Variant: RGD:8600036 -  Homo sapiens

RGD ID: 8600036
RS ID: rs137854530
ClinVar ID: CV30966
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNAS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 57,466,782
GRCh38 20 58,891,727
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000020.11:g.58891727A>G
NC_000020.10:g.57466782A>G
NP_001070956.1:p.Met1Val
NM_000516.4:c.1A>G
More... 		07/29/2022 2kb upstream variant|initiatior codon variant|initiator_codon_variant|intron|intron variant|missense|missense variant pathogenic|likely pathogenic childhood|neonatal ACTH-independent macronodular adrenal hyperplasia, somatic; Adrenal hyperfunction resulting from pituitary acth excess; Albright hereditary osteodystrophy without multiple hormone resistance; Albright syndrome; Albright's disease; Albright's Syndrome; Cushing's syndrome; Ectopic adrenocorticotropic hormone syndrome; ECTOPIC OSSIFICATION, FAMILIAL; Hyperadrenocorticism; McCune-Albright syndrome; McCune-Albright syndrome, somatic, mosaic; Nodular primary adrenocortical dysplasia; none provided; Osseus Heteroplasia, Progressive; PHP IB; PHP IC; PITUITARY ADENOMA 3, ACTH-SECRETING, SOMATIC; PITUITARY ADENOMA 3, GROWTH HORMONE-SECRETING, SOMATIC; PITUITARY ADENOMA 3, MULTIPLE TYPES; Progressive osseous heteroplasia; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1B; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism Type IB; PSEUDOHYPOPARATHYROIDISM, TYPE IC; Pseudopseudohypoparathyroidism
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GNAS
Accession:NM_016592
Location:3UTRS;INTRON

Gene Symbol:GNAS
Accession:NM_001077490
Location:3UTRS;INTRON

Gene Symbol:GNAS
Accession:NM_001309883
Location:3UTRS;INTRON

Gene Symbol:GNAS
Accession:NM_001309840
Location:5UTRS;INTRON

Gene Symbol:GNAS
Accession:XM_024451875
Location:5UTRS;INTRON

Gene Symbol:GNAS
Accession:XM_017027819
Location:5UTRS;INTRON

Gene Symbol:GNAS
Accession:XM_047440125
Location:5UTRS;INTRON

Gene Symbol:GNAS
Accession:XM_047440120
Location:5UTRS;INTRON

Gene Symbol:GNAS
Accession:XM_017027817
Location:5UTRS;INTRON

Gene Symbol:GNAS
Accession:XM_047440114
Location:5UTRS;INTRON

Gene Symbol:GNAS
Accession:XM_047440122
Location:5UTRS;INTRON

Gene Symbol:GNAS
Accession:NM_001309861
Location:5UTRS;INTRON

Gene Symbol:GNAS
Accession:XM_047440118
Location:5UTRS;INTRON

Gene Symbol:GNAS
Accession:XM_047440121
Location:5UTRS;INTRON

Gene Symbol:GNAS
Accession:XM_047440117
Location:5UTRS;INTRON

Gene Symbol:GNAS
Accession:NM_001077488
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
VGCLGNSKTEDQRNEEKAQREANKKIEKQLQKDKQVYRATHRLLLLGAGESGKSTIVKQMRILHVNGFNGEGGEEDPQAA
RSNSDGSEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGV
RACYERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFN
DVTAIIFVVASSSYNMVIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYT
TPEDATPEPGEDPRVTRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL*

Gene Symbol:GNAS
Accession:NM_000516
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
VGCLGNSKTEDQRNEEKAQREANKKIEKQLQKDKQVYRATHRLLLLGAGESGKSTIVKQMRILHVNGFNGEGGEEDPQAA
RSNSDGEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVR
ACYERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFND
VTAIIFVVASSSYNMVIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTT
PEDATPEPGEDPRVTRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL*

Gene Symbol:GNAS
Accession:NM_001077489
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
VGCLGNSKTEDQRNEEKAQREANKKIEKQLQKDKQVYRATHRLLLLGAGESGKSTIVKQMRILHVNGFNGDEKATKVQDI
KNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRACYERSNEYQLIDCA
QYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNM
VIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTTPEDATPEPGEDPRVT
RAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL*

Gene Symbol:GNAS
Accession:NM_080426
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
VGCLGNSKTEDQRNEEKAQREANKKIEKQLQKDKQVYRATHRLLLLGAGESGKSTIVKQMRILHVNGFNGDSEKATKVQD
IKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRACYERSNEYQLIDC
AQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIFVVASSSYN
MVIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTTPEDATPEPGEDPRV
TRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL*

Gene Symbol:GNAS
Accession:NM_001309842
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
VGCLGNSKTEDQRNEEKAQREANKKIEKQLQKDKQVYRATHRLLLLGAGESGKSTIVKQMRILHVNGFNGEGGEEDPQAA
RSNSDGI*

Gene Symbol:GNAS
Accession:XM_047440115
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001410912
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027813
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440116
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027820
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001410913
Location:INTRON

Gene Symbol:GNAS
Accession:NM_080425
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027815
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027818
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027812
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440123
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440119
Location:INTRON

Gene Symbol:GNAS
Accession:XM_024451873
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440113
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440124
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GNAS
Accession:NR_132273
Location:INTRON;NON-CODING

Gene Symbol:GNAS
Accession:NR_132272
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:2109828   PMID:21713996   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017278 CLINVAR
  RCV000522303 CLINVAR
  RCV000763448 CLINVAR
dbSNP (RS) rs137854530 CLINVAR
MedGen C0010481 CLINVAR
  C0033806 CLINVAR
  C3661900 CLINVAR
NCBI Gene GNAS CLINVAR
OMIM 139320 CLINVAR
  166350 CLINVAR
  174800 CLINVAR
  603233 CLINVAR
  612462 CLINVAR
  612463 CLINVAR
  617686 CLINVAR
OMIM Allele 139320.0001 CLINVAR
SNOMED CT 58976002 CLINVAR