RGD:8561184 Rat Genome Database

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Variant: RGD:8561184 -  Homo sapiens

RGD ID: 8561184
RS ID: rs137852580
ClinVar ID: CV24872
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AR  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 66,943,553
GRCh38 X 67,723,711
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.184680C>G
NC_000023.11:g.67723711C>G
NC_000023.10:g.66943553C>G
NP_001011645.1:p.Thr346Ser
More... 		04/01/2013 missense|missense variant pathogenic adulthood 1-9 / 100 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AR
Accession:NM_001011645
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 346
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILWLHSLETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNC
PSCRLRKCYEAGMTLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKLTVSHIEGYECQPIFLNVLEAIEPGVVCAGHDN
NQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFN
EYRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTS
CSRRFYQLTKLLDSVQPIARELHQFSFDLLIKSHMVSVDFPEMMAEIISVQVPKILSGKVKPIYFHTQ*

Gene Symbol:AR
Accession:NM_000044
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 878
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQQQQQQQQQQQQQQQQQQQQQ
ETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQSALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAA
PSTLSLLGPTFPGLSSCSADLKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELC
KAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAGKSTEDTAEYSPFKGGYTKGL
EGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWA
AAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGEAGAVAP
YGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRLETARDHVLPIDYYFPPQKTC
LICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLGNLKL
QEEGEASSTTSPTEETTQKLTVSHIEGYECQPIFLNVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHVVKWA
KALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQI
TPQEFLCMKALLLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLTKLLDSVQPIARELHQFSFD
LLIKSHMVSVDFPEMMAEIISVQVPKILSGKVKPIYFHTQ*

Gene Symbol:AR
Accession:NM_001348063
Location:INTRON

Gene Symbol:AR
Accession:NM_001348064
Location:INTRON

Gene Symbol:AR
Accession:NM_001348061
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:6541981   PMID:7723794  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000010507 CLINVAR
dbSNP (RS) rs137852580 CLINVAR
MedGen C4015779 CLINVAR
NCBI Gene AR CLINVAR
OMIM 313700 CLINVAR
OMIM Allele 313700.0029 CLINVAR