RGD:41406963 Rat Genome Database

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Variant: RGD:41406963 -  Homo sapiens

RGD ID: 41406963
RS ID: rs1557314226
ClinVar ID: CV983242
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB39B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 154,490,344
GRCh38 X 155,261,059
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_171998.4:c.386C>T
NM_171998.3:c.386C>T
NP_741995.1:p.Thr129Ile
NG_012626.2:g.8503C>T
More... 		06/16/2020 missense variant uncertain significance Basal ganglia disorder with mental retardation; BASAL GANGLION DISORDER WITH MENTAL RETARDATION; Early-onset parkinsonism-intellectual disability syndrome; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 72; Laxova Brown Hogan syndrome; none provided; Parkinsonism, early onset with mental retardation; X-linked recessive basal ganglia disorder with mental retardation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAB39B
Accession:NM_171998
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAIWLYQFRLIVIGDSTVGKSCLIRRFTEGRFAQVSDPTVGVDFFSRLVEIEPGKRIKLQIWDTAGQERFRSITRAYYR
NSVGGLLLFDITNRRSFQNVHEWLEETKVHVQPYQIVFVLVGHKCDLDIQRQVTRHEAEKLAAAYGMKYIETSARDAINV
EKAFTDLTRDIYELVKRGEITIQEGWEGVKSGFVPNVVHSSEEVVKSERRCLC*
Variant Samples
Additional References at PubMed
PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001289161 CLINVAR
  RCV001839039 CLINVAR
dbSNP (RS) rs1557314226 CLINVAR
MedGen C1846038 CLINVAR
  CN517202 CLINVAR
NCBI Gene RAB39B CLINVAR
OMIM 300271 CLINVAR
  300774 CLINVAR
  311510 CLINVAR