RGD:13802290 Rat Genome Database

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Variant: RGD:13802290 -  Homo sapiens

RGD ID: 13802290
RS ID: rs1564146922
ClinVar ID: CV562690
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NR5A1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 127,245,196
GRCh38 9 124,482,917
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_004950.2:p.Tyr409Ter
NG_008176.1:g.29504C>G
NC_000009.12:g.124482917G>C
NC_000009.11:g.127245196G>C
More... 		06/06/2018 nonsense likely pathogenic 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: Y to * (nonsynonymous)
Amino Acid Position: 409
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKTQRKRCPFCRFQKCLTVGMRL
EAVRADRMRGGRNKFGPMYKRDRALKQQKKAQIRANGFKLETGPPMGVPPPPPPAPDYVLPPSLHGPEPKGLAAGPPAGP
LGDFGAPALPMAVPGAHGPLAGYLYPAFPGRAIKSEYPEPYASPPQPGLPYGYPEPFSGGPNVPELILQLLQLEPDEDQV
RARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQNCWSELLVFDHIYRQVQHGKE
GSILLVTGQEVELTTVATQAGSLLHSLVLRAQELVLQLLALQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAA
LLDYTLCH*PHCGDKFQQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQAKQT*
Variant Samples
Additional References at PubMed
PMID:28032338   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002233712 CLINVAR
dbSNP (RS) rs1564146922 CLINVAR
MedGen C0403810 CLINVAR
NCBI Gene NR5A1 CLINVAR
OMIM 184757 CLINVAR
  258150 CLINVAR
SNOMED CT 236803007 CLINVAR