RGD:126750634 Rat Genome Database

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Variant: RGD:126750634 -  Homo sapiens

RGD ID: 126750634
RS ID: rs944587497
ClinVar ID: CV993118
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NR5A1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 127,262,811
GRCh38 9 124,500,532
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008176.1:g.11889G>C
NC_000009.11:g.127262811C>G
NM_004959.5:c.428G>C
NC_000009.12:g.124500532C>G
More... 		02/27/2020 missense variant uncertain significance 46, XY disorder of sex development (DSD); 46,XY disorder of sex development; OLIGOCHIASMATIC INFERTILITY; SPERMATOGENIC FAILURE 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NR5A1
Accession:NM_004959
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKTQRKRCPFCRFQKCLTVGMRL
EAVRADRMRGGRNKFGPMYKRDRALKQQKKAQIRANGFKLETGPPMGVPPPPPPAPDYVLPPTLHGPEPKGLAAGPPAGP
LGDFGAPALPMAVPGAHGPLAGYLYPAFPGRAIKSEYPEPYASPPQPGLPYGYPEPFSGGPNVPELILQLLQLEPDEDQV
RARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQNCWSELLVFDHIYRQVQHGKE
GSILLVTGQEVELTTVATQAGSLLHSLVLRAQELVLQLLALQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAA
LLDYTLCHYPHCGDKFQQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQAKQT*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001306883 CLINVAR
dbSNP (RS) rs944587497 CLINVAR
MedGen C0403810 CLINVAR
NCBI Gene NR5A1 CLINVAR
OMIM 184757 CLINVAR
  258150 CLINVAR
SNOMED CT 236803007 CLINVAR