RGD:329351198 Rat Genome Database

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Variant: RGD:329351198 -  Homo sapiens

RGD ID: 329351198
ClinVar ID: CV2418194
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SSX1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 48,117,275
GRCh38 X 48,257,840
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005635.4:c.164A>G
NG_012528.2:g.7479A>G
NC_000023.10:g.48117275A>G
NM_005635.3:c.164A>G
More... 		03/16/2023 missense variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SSX1
Accession:NM_005635
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGDDTFAKRPRDDAKASEKRSKAFDDIATYFSKKEWKKMKYSEKISYVYMKRNCKAMTKLGFKVTLPPFMCNKQATDFQ
GNDFDNDHNRRIQVEHPQMTFGRLHRIIPKIMPKKPAEDENDSKGVSEASGPQNDGKQLHPPGKANISEKINKRSGPKRG
KHAWTHRLRERKQLVIYEEISDPEEDDE*

Gene Symbol:SSX1
Accession:NM_001278691
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGDDTFAKRPRDDAKASEKRSKAFDDIATYFSKKEWKKMKYSEKISYVYMKRNCKAMTKLGFKVTLPPFMCNKQATDFQ
GNDFDNDHNRRIQVEHPQMTFGRLHRIIPKIMPKKPAEDENDSKGVSEASGPQNDGKQLHPPGKANISEKINKRSGPKRG
KHAWTHRLRERKQLVIYEEISDPEEDDE*
Variant Samples
Additional References at PubMed
PMID:36796361  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003153261 CLINVAR
MedGen C5829558 CLINVAR
NCBI Gene SSX1 CLINVAR
OMIM 301099 CLINVAR
  312820 CLINVAR
OMIM Allele 312820.0002 CLINVAR