RGD:38489887 Rat Genome Database

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Variant: RGD:38489887 -  Homo sapiens

RGD ID: 38489887
RS ID: rs758120241
ClinVar ID: CV951795
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NYX  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 41,333,092
GRCh38 X 41,473,839
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001378477.3:c.371G>C
NM_022567.3:c.371G>C
NP_001365406.2:p.Arg124Pro
NP_072089.2:p.Arg124Pro
More... 		10/28/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NYX
Accession:NM_001378477
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLVLLLHAVVLGLPSAWAVGACARACPAACACSTVERGCSVRCDRAGLLRVPAELPCEAVSIDLDRNGLRFLGERAFGTL
PSLRRLSLRHNNLSFITPGAFKGLPRLAELRLAHNGDLRYLHAPTFAALSRLRRLDLAACRLFSVPERLLAELPALRELA
AFDNLFRRVPGALRGLANLTHAHLERGRIEAVASSSLQGLRRLRSLSLQANRVRAVHAGAFGDCGVLEHLLLNDNLLAEL
PADAFRGLRRLRTLNLGGNALDRVARAWFADLAELELLYLDRNSIAFVEEGAFQNLSGLLALHLNGNRLTVLAWVAFQPG
FFLGRLFLFRNPWCCDCRLEWLRDWMEGSGRVTDVPCASPGSVAGLDLSQVTFGRSSDGLCVDPEELNLTTSSPGPSPEP
AATTVSRFSSLLSKLLAPRVPVEEAANTTGGLANASLSDSLSSRGVGGAGRQPWFLLASCLLPSVAQHVVFGLQMD*

Gene Symbol:NYX
Accession:NM_022567
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLVLLLHAVVLGLPSAWAVGACARACPAACACSTVERGCSVRCDRAGLLRVPAELPCEAVSIDLDRNGLRFLGERAFGTL
PSLRRLSLRHNNLSFITPGAFKGLPRLAELRLAHNGDLRYLHAPTFAALSRLRRLDLAACRLFSVPERLLAELPALRELA
AFDNLFRRVPGALRGLANLTHAHLERGRIEAVASSSLQGLRRLRSLSLQANRVRAVHAGAFGDCGVLEHLLLNDNLLAEL
PADAFRGLRRLRTLNLGGNALDRVARAWFADLAELELLYLDRNSIAFVEEGAFQNLSGLLALHLNGNRLTVLAWVAFQPG
FFLGRLFLFRNPWCCDCRLEWLRDWMEGSGRVTDVPCASPGSVAGLDLSQVTFGRSSDGLCVDPEELNLTTSSPGPSPEP
AATTVSRFSSLLSKLLAPRVPVEEAANTTGGLANASLSDSLSSRGVGGAGRQPWFLLASCLLPSVAQHVVFGLQMD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001238602 CLINVAR
dbSNP (RS) rs758120241 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NYX CLINVAR
OMIM 300278 CLINVAR