RGD:38492217 Rat Genome Database

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Variant: RGD:38492217 -  Homo sapiens

RGD ID: 38492217
RS ID: rs886041132
ClinVar ID: CV929795
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AR  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 66,942,785
GRCh38 X 67,722,943
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000044.6:c.2566C>A
NM_001011645.3:c.970C>A
NG_009014.2:g.183912C>A
NC_000023.11:g.67722943C>A
More... 		01/24/2020 missense variant pathogenic|likely pathogenic|uncertain significance 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: R to S (nonsynonymous)
Amino Acid Position: 856
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQQQQQQQQQQQQQQQQQQQQQ
ETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQSALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAA
PSTLSLLGPTFPGLSSCSADLKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELC
KAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAGKSTEDTAEYSPFKGGYTKGL
EGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWA
AAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGEAGAVAP
YGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRLETARDHVLPIDYYFPPQKTC
LICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLGNLKL
QEEGEASSTTSPTEETTQKLTVSHIEGYECQPIFLNVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHVVKWA
KALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQI
TPQEFLCMKALLLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTSCSRSFYQLTKLLDSVQPIARELHQFTFD
LLIKSHMVSVDFPEMMAEIISVQVPKILSGKVKPIYFHTQ*

Gene Symbol:AR
Accession:NM_001011645
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 324
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILWLHSLETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNC
PSCRLRKCYEAGMTLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKLTVSHIEGYECQPIFLNVLEAIEPGVVCAGHDN
NQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFN
EYRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTS
CSRSFYQLTKLLDSVQPIARELHQFTFDLLIKSHMVSVDFPEMMAEIISVQVPKILSGKVKPIYFHTQ*

Gene Symbol:AR
Accession:NM_001348061
Location:INTRON

Gene Symbol:AR
Accession:NM_001348064
Location:INTRON

Gene Symbol:AR
Accession:NM_001348063
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:1430233   PMID:7581399   PMID:8097257   PMID:24321103   PMID:24737579   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001223380 CLINVAR
  RCV001567879 CLINVAR
dbSNP (RS) rs886041132 CLINVAR
MedGen C0039585 CLINVAR
  C3661900 CLINVAR
NCBI Gene AR CLINVAR
OMIM 300068 CLINVAR
  313200 CLINVAR
  313700 CLINVAR
SNOMED CT 12313004 CLINVAR