RGD:38460380 Rat Genome Database

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Variant: RGD:38460380 -  Homo sapiens

RGD ID: 38460380
RS ID: rs146744182
ClinVar ID: CV919923
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNAS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 57,429,643
GRCh38 20 58,854,588
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016592.5:c.*42+13702C>T
NM_001077490.3:c.1136C>T
NM_080425.4:c.1323C>T
NM_001309861.2:c.-39+12713C>T
More... 		02/19/2022 intron variant uncertain significance ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; ACTH-independent macronodular adrenal hyperplasia 1; ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA; ADRENOCORTICOTROPIC HORMONE-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; Albright hereditary osteodystrophy with multiple hormone resistance; Albright hereditary osteodystrophy without multiple hormone resistance; Albright's disease; Albright's Syndrome; CORTICOTROPIN-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; CUSHING SYNDROME, ADRENAL, DUE TO AIMAH; ECTOPIC OSSIFICATION, FAMILIAL; McCune-Albright syndrome, somatic, mosaic; Osseus Heteroplasia, Progressive; PHP IA; 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 type 1A; Pseudohypoparathyroidism type 1B; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type I A; Pseudohypoparathyroidism Type IA; Pseudohypoparathyroidism Type IB; PSEUDOHYPOPARATHYROIDISM, TYPE IC; Pseudopseudohypoparathyroidism
Disease Annotations     Click to see Annotation Detail View


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

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

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

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

Gene Symbol:GNAS
Accession:NM_001410913
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 441
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVRNCLYGNNMSGQRDIPPEIGEQPEQPPLEAPGAAAPGAGPSPAEEMETEPPHNEPIPVENDGEACGPPEVSRPNFQV
LNPAFREAGAHGSYSPPPEEAMPFEAEQPSLGGFWPTLEQPGFPSGVHAGLEAFGPALMEPGAFSGARPGLGGYSPPPEE
AMPFEFDQPAQRGCSQLLLQVPDLAPGGPGAAGVPGAPPEEPQALRPAKAGSRGGYSPPPEETMPFELDGEGFGDDSPPP
GLSRVIAQVDGSSQFAAVAASSAVRLTPAANAPPLWVPGAIGSPSQEAVRPPSNFTGSSPWMEISGPPFEIGSAPAGVDD
TPVNMDSPPIALDGPPIKVSGAPDKRERAERPPVEEEAAEMEGAADAAEGGKVPSPGYGSPAAGAASADTAARAAPAAPA
DPDSGATPEDPDSGTAPADPDSGAFAADPDSGAAPAAPADPDSGAAPDAPADPDSGAAPDAPADPDAGAAPEAPAAPAAA
ETRAAHVAPAAPDAGAPTAPAASATRAAQVRRAASAAPASGARRKIHLRPPSPEIQAADPPTPRPTRASAWRGKSESSRG
RRVYYDEGVASSDDDSSGDESDDGTSGCLRWFQHRRNRRRRKPQRNLLRNFLVQAFGGCFGRSESPQPKASRSLKVKKVP
LAEKRRQMRKEALEKRAQKRAEKKRSKLIDKQLQDEKMGYMCTHRLLLLGAGESGKSTIVKQMRILHVNGFNGDEKATKV
QDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRACYERSNEYQLI
DCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIFVVASSS
YNMVIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTTPEDATPEPGEDP
RVTRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL*

Gene Symbol:GNAS
Accession:NM_001309883
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMARPVDPQRSPDPTFRSSTRHSGKLEPMEATAHLLRKQCPSRLNSPAWEASGLHWSSLDSPVGSMQALRPSAQHSWSPE
PSVVPDQAWEDTALHQKKLCPLSLTSLPREAAVNFSYRSQTLLQEAQVLQGSPELLPRSPKPSGLQRLAPEEATALPLRR
LCHLSLMEKDLGTTAHPRGFPELSHKSTAAASSRQSRPRVRSASLPPRTRLPSGSQAPSAAHPKRLSDLLLTSRAAAPGW
RSPDPRSRLAAPPLGSTTLPSTWTAPQSRLTARPSRSPEPQIRESEQRDPQLRRKQQRWKEPLMPRREEKYPLRGTDPLP
PGQPQRIPLPGQPLQPQPILTPGQPQKIPTPGQHQPILTPGHSQPIPTPGQPLPPQPILTPGRPLTPQPIPTPGRPLTPQ
PIQMPGRPLRLPPPLRLLRPGQPMSPQLRQTQGLPLPQPLLPPGQPKSAGRPLQPLPPGPDARSISDPPAPRSRLPIRLL
RGLLARLPGGASPRAAAAAACTTMKGWPAATMTPAETSPTMGPPDASAGFSIGEIAAAESPSATYSATFSCKPSGAASVD
LRVPSPKPRALSRSRRYPWRRSADRCAKKPWRSGPRSAQRRNAVSSSTNNSRTKRWATCVRTACCF*

Gene Symbol:GNAS
Accession:NM_001077490
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMARPVDPQRSPDPTFRSSTRHSGKLEPMEATAHLLRKQCPSRLNSPAWEASGLHWSSLDSPVGSMQALRPSAQHSWSPE
PSVVPDQAWEDTALHQKKLCPLSLTSLPREAAVNFSYRSQTLLQEAQVLQGSPELLPRSPKPSGLQRLAPEEATALPLRR
LCHLSLMEKDLGTTAHPRGFPELSHKSTAAASSRQSRPRVRSASLPPRTRLPSGSQAPSAAHPKRLSDLLLTSRAAAPGW
RSPDPRSRLAAPPLGSTTLPSTWTAPQSRLTARPSRSPEPQIRESEQRDPQLRRKQQRWKEPLMPRREEKYPLRGTDPLP
PGQPQRIPLPGQPLQPQPILTPGQPQKIPTPGQHQPILTPGHSQPIPTPGQPLPPQPILTPGRPLTPQPIPTPGRPLTPQ
PIQMPGRPLRLPPPLRLLRPGQPMSPQLRQTQGLPLPQPLLPPGQPKSAGRPLQPLPPGPDARSISDPPAPRSRLPIRLL
RGLLARLPGGASPRAAAAAACTTMKGWPAATMTPAETSPTMGPPDASAGFSIGEIAAAESPSATYSATFSCKPSGAASVD
LRVPSPKPRALSRSRRYPWRRSADRCAKKPWRSGPRSAQRRNAVSSSTNNSRTKRWATCVRTACCF*

Gene Symbol:GNAS
Accession:NM_080425
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 441
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVRNCLYGNNMSGQRDIPPEIGEQPEQPPLEAPGAAAPGAGPSPAEEMETEPPHNEPIPVENDGEACGPPEVSRPNFQV
LNPAFREAGAHGSYSPPPEEAMPFEAEQPSLGGFWPTLEQPGFPSGVHAGLEAFGPALMEPGAFSGARPGLGGYSPPPEE
AMPFEFDQPAQRGCSQLLLQVPDLAPGGPGAAGVPGAPPEEPQALRPAKAGSRGGYSPPPEETMPFELDGEGFGDDSPPP
GLSRVIAQVDGSSQFAAVAASSAVRLTPAANAPPLWVPGAIGSPSQEAVRPPSNFTGSSPWMEISGPPFEIGSAPAGVDD
TPVNMDSPPIALDGPPIKVSGAPDKRERAERPPVEEEAAEMEGAADAAEGGKVPSPGYGSPAAGAASADTAARAAPAAPA
DPDSGATPEDPDSGTAPADPDSGAFAADPDSGAAPAAPADPDSGAAPDAPADPDSGAAPDAPADPDAGAAPEAPAAPAAA
ETRAAHVAPAAPDAGAPTAPAASATRAAQVRRAASAAPASGARRKIHLRPPSPEIQAADPPTPRPTRASAWRGKSESSRG
RRVYYDEGVASSDDDSSGDESDDGTSGCLRWFQHRRNRRRRKPQRNLLRNFLVQAFGGCFGRSESPQPKASRSLKVKKVP
LAEKRRQMRKEALEKRAQKRAEKKRSKLIDKQLQDEKMGYMCTHRLLLLGAGESGKSTIVKQMRILHVNGFNGEGGEEDP
QAARSNSDGEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDE
GVRACYERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQC
FNDVTAIIFVVASSSYNMVIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFAR
YTTPEDATPEPGEDPRVTRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL*

Gene Symbol:GNAS
Accession:XM_017027813
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 441
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVRNCLYGNNMSGQRDIPPEIGEQPEQPPLEAPGAAAPGAGPSPAEEMETEPPHNEPIPVENDGEACGPPEVSRPNFQV
LNPAFREAGAHGSYSPPPEEAMPFEAEQPSLGGFWPTLEQPGFPSGVHAGLEAFGPALMEPGAFSGARPGLGGYSPPPEE
AMPFEFDQPAQRGCSQLLLQVPDLAPGGPGAAGVPGAPPEEPQALRPAKAGSRGGYSPPPEETMPFELDGEGFGDDSPPP
GLSRVIAQVDGSSQFAAVAASSAVRLTPAANAPPLWVPGAIGSPSQEAVRPPSNFTGSSPWMEISGPPFEIGSAPAGVDD
TPVNMDSPPIALDGPPIKVSGAPDKRERAERPPVEEEAAEMEGAADAAEGGKVPSPGYGSPAAGAASADTAARAAPAAPA
DPDSGATPEDPDSGTAPADPDSGAFAADPDSGAAPAAPADPDSGAAPDAPADPDSGAAPDAPADPDAGAAPEAPAAPAAA
ETRAAHVAPAAPDAGAPTAPAASATRAAQVRRAASAAPASGARRKIHLRPPSPEIQAADPPTPRPTRASAWRGKSESSRG
RRVYYDEGVASSDDDSSGDESDDGTSGCLRWFQHRRNRRRRKPQRNLLRNFLVQAFGGCFGRSESPQPKASRSLKVKKVP
LAEKRRQMRKEALEKRAQKRAEKKRSKLIDKQLQDEKMGYMCTHRLLLLGAGESGKSTIVKQMRILHVNGFNGDSEKATK
VQDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRACYERSNEYQL
IDCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIFVVASS
SYNMVIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTTPEDATPEPGED
PRVTRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL*

Gene Symbol:GNAS
Accession:XM_017027812
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 441
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVRNCLYGNNMSGQRDIPPEIGEQPEQPPLEAPGAAAPGAGPSPAEEMETEPPHNEPIPVENDGEACGPPEVSRPNFQV
LNPAFREAGAHGSYSPPPEEAMPFEAEQPSLGGFWPTLEQPGFPSGVHAGLEAFGPALMEPGAFSGARPGLGGYSPPPEE
AMPFEFDQPAQRGCSQLLLQVPDLAPGGPGAAGVPGAPPEEPQALRPAKAGSRGGYSPPPEETMPFELDGEGFGDDSPPP
GLSRVIAQVDGSSQFAAVAASSAVRLTPAANAPPLWVPGAIGSPSQEAVRPPSNFTGSSPWMEISGPPFEIGSAPAGVDD
TPVNMDSPPIALDGPPIKVSGAPDKRERAERPPVEEEAAEMEGAADAAEGGKVPSPGYGSPAAGAASADTAARAAPAAPA
DPDSGATPEDPDSGTAPADPDSGAFAADPDSGAAPAAPADPDSGAAPDAPADPDSGAAPDAPADPDAGAAPEAPAAPAAA
ETRAAHVAPAAPDAGAPTAPAASATRAAQVRRAASAAPASGARRKIHLRPPSPEIQAADPPTPRPTRASAWRGKSESSRG
RRVYYDEGVASSDDDSSGDESDDGTSGCLRWFQHRRNRRRRKPQRNLLRNFLVQAFGGCFGRSESPQPKASRSLKVKKVP
LAEKRRQMRKEALEKRAQKRAEKKRSKLIDKQLQDEKMGYMCTHRLLLLGAGESGKSTIVKQMRILHVNGFNGEGGEEDP
QAARSNSDGSEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWED
EGVRACYERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQ
CFNDVTAIIFVVASSSYNMVIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFA
RYTTPEDATPEPGEDPRVTRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 441
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVRNCLYGNNMSGQRDIPPEIGEQPEQPPLEAPGAAAPGAGPSPAEEMETEPPHNEPIPVENDGEACGPPEVSRPNFQV
LNPAFREAGAHGSYSPPPEEAMPFEAEQPSLGGFWPTLEQPGFPSGVHAGLEAFGPALMEPGAFSGARPGLGGYSPPPEE
AMPFEFDQPAQRGCSQLLLQVPDLAPGGPGAAGVPGAPPEEPQALRPAKAGSRGGYSPPPEETMPFELDGEGFGDDSPPP
GLSRVIAQVDGSSQFAAVAASSAVRLTPAANAPPLWVPGAIGSPSQEAVRPPSNFTGSSPWMEISGPPFEIGSAPAGVDD
TPVNMDSPPIALDGPPIKVSGAPDKRERAERPPVEEEAAEMEGAADAAEGGKVPSPGYGSPAAGAASADTAARAAPAAPA
DPDSGATPEDPDSGTAPADPDSGAFAADPDSGAAPAAPADPDSGAAPDAPADPDSGAAPDAPADPDAGAAPEAPAAPAAA
ETRAAHVAPAAPDAGAPTAPAASATRAAQVRRAASAAPASGARRKIHLRPPSPEIQAADPPTPRPTRASAWRGKSESSRG
RRVYYDEGVASSDDDSSGDESDDGTSGCLRWFQHRRNRRRRKPQRNLLRNFLVQAFGGCFGRSESPQPKASRSLKVKKVP
LAEKRRQMRKEALEKRAQKRAEKKRSKLIDKQLQDEKMGYMCTHRLLLLGAGESGKSTIVKQMRILHVNGFNGDEKATKV
QDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRACYERSNEYQLI
DCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIFVVASSS
YNMVIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTTPEDATPEPGEDP
RVTRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL*

Gene Symbol:GNAS
Accession:XM_024451873
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440118
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001077489
Location:INTRON

Gene Symbol:GNAS
Accession:XM_024451875
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027817
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027820
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440116
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440124
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001309842
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440121
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440125
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027819
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440119
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440117
Location:INTRON

Gene Symbol:GNAS
Accession:NM_000516
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027815
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440123
Location:INTRON

Gene Symbol:GNAS
Accession:NM_080426
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027818
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440115
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001309840
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440113
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001410912
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001077488
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440120
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001196583 CLINVAR
  RCV002491595 CLINVAR
dbSNP (RS) rs146744182 CLINVAR
MedGen C0242292 CLINVAR
  C1864100 CLINVAR
NCBI Gene GNAS CLINVAR
OMIM 103580 CLINVAR
  139320 CLINVAR
  166350 CLINVAR
  174800 CLINVAR
  219080 CLINVAR
  603233 CLINVAR
  612462 CLINVAR
  612463 CLINVAR
  617686 CLINVAR
SNOMED CT 237659007 CLINVAR