RGD:13509351 Rat Genome Database

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Variant: RGD:13509351 -  Homo sapiens

RGD ID: 13509351
RS ID: rs764736358
ClinVar ID: CV482251
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NYX  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 41,334,060
GRCh38 X 41,474,807
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.10:g.41334060G>T
NC_000023.11:g.41474807G>T
NG_009112.1:g.32348G>T
NP_072089.1:p.Gly452Ter
More... 		06/24/2020 nonsense likely pathogenic|conflicting interpretations of pathogenicity none provided

Variant Details
Variant Transcripts
Gene Symbol:NYX
Accession:NM_022567
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 447
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLVLLLHAVVLGLPSAWAVGACARACPAACACSTVERGCSVRCDRAGLLRVPAELPCEAVSIDLDRNGLRFLGERAFGTL
PSLRRLSLRHNNLSFITPGAFKGLPRLAELRLAHNGDLRYLHARTFAALSRLRRLDLAACRLFSVPERLLAELPALRELA
AFDNLFRRVPGALRGLANLTHAHLERGRIEAVASSSLQGLRRLRSLSLQANRVRAVHAGAFGDCGVLEHLLLNDNLLAEL
PADAFRGLRRLRTLNLGGNALDRVARAWFADLAELELLYLDRNSIAFVEEGAFQNLSGLLALHLNGNRLTVLAWVAFQPG
FFLGRLFLFRNPWCCDCRLEWLRDWMEGSGRVTDVPCASPGSVAGLDLSQVTFGRSSDGLCVDPEELNLTTSSPGPSPEP
AATTVSRFSSLLSKLLAPRVPVEEAANTTGGLANASLSDSLSSRGV*GAGRQPWFLLASCLLPSVAQHVVFGLQMD*

Gene Symbol:NYX
Accession:NM_001378477
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 447
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLVLLLHAVVLGLPSAWAVGACARACPAACACSTVERGCSVRCDRAGLLRVPAELPCEAVSIDLDRNGLRFLGERAFGTL
PSLRRLSLRHNNLSFITPGAFKGLPRLAELRLAHNGDLRYLHARTFAALSRLRRLDLAACRLFSVPERLLAELPALRELA
AFDNLFRRVPGALRGLANLTHAHLERGRIEAVASSSLQGLRRLRSLSLQANRVRAVHAGAFGDCGVLEHLLLNDNLLAEL
PADAFRGLRRLRTLNLGGNALDRVARAWFADLAELELLYLDRNSIAFVEEGAFQNLSGLLALHLNGNRLTVLAWVAFQPG
FFLGRLFLFRNPWCCDCRLEWLRDWMEGSGRVTDVPCASPGSVAGLDLSQVTFGRSSDGLCVDPEELNLTTSSPGPSPEP
AATTVSRFSSLLSKLLAPRVPVEEAANTTGGLANASLSDSLSSRGV*GAGRQPWFLLASCLLPSVAQHVVFGLQMD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000579338 CLINVAR
dbSNP (RS) rs764736358 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NYX CLINVAR
OMIM 300278 CLINVAR