RGD:8621829 Rat Genome Database

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Variant: RGD:8621829 -  Homo sapiens

RGD ID: 8621829
RS ID: rs397515550
ClinVar ID: CV76585
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 21,990,044
GRCh38 X 21,971,926
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_009228.1:g.36203G>A
NC_000023.11:g.21971926G>A
NC_000023.10:g.21990044G>A
NP_004586.2:p.Gly67Glu
More... 		10/07/2022 intron|intron variant|missense|missense variant pathogenic adolescence / young adulthood|adolescent|childhood <1 / 1 000 000 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; none provided; Snyder Robinson syndrome; SNYDER-ROBINSON MENTAL RETARDATION SYNDROME; Spermine synthase deficiency; X-linked mental retardation Snyder - Robinson type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMS
Accession:NM_004595
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAARHSTLDFMLGAKADGETILKGLQSIFQEQGMAESVHTWQDHGYLATYTNKNGSFANLRIYPHELVLLDLQSYDGDA
QGKEEIDSILNKVEERMKELSQDSTGRVKRLPPIVRGGAIDRYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGN
ILILSGDVNLAESDLAYTRAIMGSGKEDYTGKDVLILGGGDGGILCEIVKLKPKMVTMVEIDQMVIDGCKKYMRKTCGDV
LDNLKGDCYQVLIEDCIPVLKRYAKEGREFDYVINDLTAVPISTSPEEDSTWEFLRLILDLSMKVLKQDGKYFTQGNCVN
LTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLELWVFYTVWKKAKP*

Gene Symbol:SMS
Accession:XM_011545568
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAESVHTWQDHGYLATYTNKNGSFANLRIYPHELVLLDLQSYDGDAQGKEEIDSILNKVEERMKELSQDSTGRVKRLPPI
VRGGAIDRYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGNILILSGDVNLAESDLAYTRAIMGSGKEDYTGKDV
LILGGGDGGILCEIVKLKPKMVTMVEIDQMVIDGCKKYMRKTCGDVLDNLKGDCYQVLIEDCIPVLKRYAKEGREFDYVI
NDLTAVPISTSPEEDSTWEFLRLILDLSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLEL
WVFYTVWKKAKP*

Gene Symbol:SMS
Accession:XM_005274582
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAESVHTWQDHGYLATYTNKNGSFANLRIYPHELVLLDLQSYDGDAQGKEEIDSILNKVEERMKELSQDSTGRVKRLPPI
VRGGAIDRYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGNILILSGDVNLAESDLAYTRAIMGSGKEDYTGKDV
LILGGGDGGILCEIVKLKPKMVTMVEIDQMVIDGCKKYMRKTCGDVLDNLKGDCYQVLIEDCIPVLKRYAKEGREFDYVI
NDLTAVPISTSPEEDSTWEFLRLILDLSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLEL
WVFYTVWKKAKP*

Gene Symbol:SMS
Accession:NM_001258423
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23897707  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000055903 CLINVAR
  RCV003221798 CLINVAR
dbSNP (RS) rs397515550 CLINVAR
MedGen C0796160 CLINVAR
  CN517202 CLINVAR
NCBI Gene SMS CLINVAR
OMIM 300105 CLINVAR
  309583 CLINVAR
OMIM Allele 300105.0005 CLINVAR