RGD:13511769 Rat Genome Database

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Variant: RGD:13511769 -  Homo sapiens

RGD ID: 13511769
RS ID: rs143040492
ClinVar ID: CV485854
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 66,943,532
GRCh38 X 67,723,690
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009014.2:g.184659C>T
NC_000023.11:g.67723690C>T
NC_000023.10:g.66943532C>T
NP_000035.2:p.Ala871Val
More... 		12/03/2021 missense variant pathogenic Androgen insensitivity; Androgen insensitivity syndrome; Androgen insensitivity syndrome due to coactivator deficiency; Androgen insensitivity, complete; Androgen receptor deficiency; Bulbo-spinal atrophy X-linked; Bulbospinal neuronopathy X-linked recessive; Dihydrotestosterone receptor deficiency; Kennedy disease; Kennedy spinal and bulbar muscular atrophy; none provided; Spinal and bulbar muscular atrophy X-linked; SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; TESTICULAR FEMINIZATION SYNDROME
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AR
Accession:NM_000044
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 871
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQQQQQQQQQQQQQQQQQQQQQ
ETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQSALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAA
PSTLSLLGPTFPGLSSCSADLKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELC
KAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAGKSTEDTAEYSPFKGGYTKGL
EGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWA
AAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGEAGAVAP
YGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRLETARDHVLPIDYYFPPQKTC
LICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLGNLKL
QEEGEASSTTSPTEETTQKLTVSHIEGYECQPIFLNVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHVVKWA
KALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQI
TPQEFLCMKALLLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLTKLLDSVQPIVRELHQFTFD
LLIKSHMVSVDFPEMMAEIISVQVPKILSGKVKPIYFHTQ*

Gene Symbol:AR
Accession:NM_001011645
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 339
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILWLHSLETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNC
PSCRLRKCYEAGMTLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKLTVSHIEGYECQPIFLNVLEAIEPGVVCAGHDN
NQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFN
EYRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTS
CSRRFYQLTKLLDSVQPIVRELHQFTFDLLIKSHMVSVDFPEMMAEIISVQVPKILSGKVKPIYFHTQ*

Gene Symbol:AR
Accession:NM_001348063
Location:INTRON

Gene Symbol:AR
Accession:NM_001348061
Location:INTRON

Gene Symbol:AR
Accession:NM_001348064
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7981687   PMID:8033918   PMID:8723113   PMID:9332480   PMID:20305676   PMID:25741868   PMID:28261839   PMID:28492532   PMID:29758562   PMID:31219235   PMID:34689141  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000582850 CLINVAR
  RCV000687621 CLINVAR
  RCV001200503 CLINVAR
  RCV003222053 CLINVAR
dbSNP (RS) rs143040492 CLINVAR
MedGen C0039585 CLINVAR
  C2678098 CLINVAR
  C3661900 CLINVAR
NCBI Gene AR CLINVAR
OMIM 300068 CLINVAR
  300633 CLINVAR
  313200 CLINVAR
  313700 CLINVAR
SNOMED CT 12313004 CLINVAR