RGD:8561206 Rat Genome Database

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Variant: RGD:8561206 -  Homo sapiens

RGD ID: 8561206
RS ID: rs137852599
ClinVar ID: CV24895
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AR  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 66,931,427
GRCh38 X 67,711,585
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_009014.2:g.172554A>C
NC_000023.11:g.67711585A>C
NC_000023.10:g.66931427A>C
NP_001011645.1:p.His158Pro
More... 		10/01/2013 missense|missense variant pathogenic all ages 1-9 / 100 000 Androgen insensitivity; Androgen insensitivity syndrome; Androgen insensitivity syndrome due to coactivator deficiency; Androgen insensitivity, complete; Androgen receptor deficiency; Dihydrotestosterone receptor deficiency; 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: H to P (nonsynonymous)
Amino Acid Position: 690
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQQQQQQQQQQQQQQQQQQQQQ
ETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQSALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAA
PSTLSLLGPTFPGLSSCSADLKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELC
KAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAGKSTEDTAEYSPFKGGYTKGL
EGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWA
AAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGEAGAVAP
YGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRLETARDHVLPIDYYFPPQKTC
LICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLGNLKL
QEEGEASSTTSPTEETTQKLTVSHIEGYECQPIFLNVLEAIEPGVVCAGPDNNQPDSFAALLSSLNELGERQLVHVVKWA
KALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQI
TPQEFLCMKALLLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLTKLLDSVQPIARELHQFTFD
LLIKSHMVSVDFPEMMAEIISVQVPKILSGKVKPIYFHTQ*

Gene Symbol:AR
Accession:NM_001011645
Location:EXON
Amino Acid Prediction: H to P (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILWLHSLETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNC
PSCRLRKCYEAGMTLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKLTVSHIEGYECQPIFLNVLEAIEPGVVCAGPDN
NQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFN
EYRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTS
CSRRFYQLTKLLDSVQPIARELHQFTFDLLIKSHMVSVDFPEMMAEIISVQVPKILSGKVKPIYFHTQ*

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:12213902  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000010530 CLINVAR
dbSNP (RS) rs137852599 CLINVAR
MedGen C0039585 CLINVAR
NCBI Gene AR CLINVAR
OMIM 300068 CLINVAR
  313700 CLINVAR
OMIM Allele 313700.0055 CLINVAR
SNOMED CT 12313004 CLINVAR