RGD:38461919 Rat Genome Database

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Variant: RGD:38461919 -  Homo sapiens

RGD ID: 38461919
RS ID: rs782088842
ClinVar ID: CV919990
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127898528  RPL10  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 153,628,189
GRCh38 X 154,399,848
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006013.3:c.236G>C
NM_001303625.1:c.236G>C
NM_001303626.1:c.236G>C
NM_006013.5:c.236G>C
More... 		04/11/2019 missense variant uncertain significance INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35; MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RPL10
Accession:NM_001303625
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRRPARCYRYCKNKPYPKSRFCRGVPDAKIRIFDLGRKKAKVDEFPLCGHMVSDEYEQLSSEALEAARICANKYMVKTC
GKDGFHIRVRLHPFHVIRINKMLSCAGADRLQTGMRGAFGKPQGTVARVHIGQVIMSIRTKLQNKEHVIEALRRAKFKFP
GRQKIHISKKWGFTKFNADEFEDMVAEKRLIPDGCGVKYIPSRGPLDKWRALHS*

Gene Symbol:RPL10
Accession:NM_006013
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRRPARCYRYCKNKPYPKSRFCRGVPDAKIRIFDLGRKKAKVDEFPLCGHMVSDEYEQLSSEALEAARICANKYMVKTC
GKDGFHIRVRLHPFHVIRINKMLSCAGADRLQTGMRGAFGKPQGTVARVHIGQVIMSIRTKLQNKEHVIEALRRAKFKFP
GRQKIHISKKWGFTKFNADEFEDMVAEKRLIPDGCGVKYIPSRGPLDKWRALHS*

Gene Symbol:RPL10
Accession:NM_001256577
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRRPARCYRYCKNKPYPKSRFCRGVPDAKIRIFDLGRKKAKVDEFPLCGHMVSDEYEQLSSEALEAARICANKYMVKTC
GKDGFHIRVRLHPFHVIRINKMLSCAGADRSTSQRSGASPSSMLMNLKTWWLKSGSSQMAVGSSTSPVVALWTSGGPCTH
EGFQCAAPLLILTNKFYFLSTYVFVSTFLTGKELPLGTFGSLPFHFRNRLTTQPCS*

Gene Symbol:RPL10
Accession:NM_001303624
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRRPARCYRYCKNKPYPKSRFCRGVPDAKIRIFDLGRKKAKVDEFPLCGHMVSDEYEQLSSEALEAARICANKYMVKTC
GKDGFHIRVRLHPFHVIRINKMLSCAGADRLQTGMRGAFGKPQGTVARVHIGQVIMSIRTKLQNKEHVIEALRRAKFKFP
GRQKIHISKKWGFTKFNADEFEDMVAEKRLIPDGCGVKYIPSRGPLDKWRALHS*

Gene Symbol:RPL10
Accession:NM_001256580
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRRPARCYRYCKNKPYPKSRFCRGVPALEAARICANKYMVKTCGKDGFHIRVRLHPFHVIRINKMLSCAGADRLQTGMR
GAFGKPQGTVARVHIGQVIMSIRTKLQNKEHVIEALRRAKFKFPGRQKIHISKKWGFTKFNADEFEDMVAEKRLIPDGCG
VKYIPSRGPLDKWRALHS*

Gene Symbol:RPL10
Accession:NM_001303626
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRRPARCYRYCKNKPYPKSRFCRGVPDAKIRIFDLGRKKAKVDEFPLCGHMVSDEYEQLSSEALEAARICANKYMVKTC
GKDGFHIRVRLHPFHVIRINKMLSCAGADRHARCLWKAPGHCGQGSHWPSYHVHPHQAAEQGACD*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001198026 CLINVAR
  RCV001773450 CLINVAR
dbSNP (RS) rs782088842 CLINVAR
MedGen C4478383 CLINVAR
  CN517202 CLINVAR
NCBI Gene RPL10 CLINVAR
OMIM 300998 CLINVAR
  312173 CLINVAR