RGD:8568026 Rat Genome Database

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Variant: RGD:8568026 -  Homo sapiens

RGD ID: 8568026
RS ID: rs387906710
ClinVar ID: CV38906
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UBQLN2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 56,591,795
GRCh38 X 56,565,362
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_016249.1:g.6770C>T
NC_000023.11:g.56565362C>T
NC_000023.10:g.56591795C>T
NP_038472.2:p.Pro497Ser
More... 		08/27/2023 missense|missense variant pathogenic adulthood 1-9 / 100 000 AMYOTROPHIC LATERAL SCLEROSIS 15 WITH FRONTOTEMPORAL DEMENTIA; Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UBQLN2
Accession:NM_013444
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 497
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAENGESSGPPRPSRGPAAAQGSAAAPAEPKIIKVTVKTPKEKEEFAVPENSSVQQFKEAISKRFKSQTDQLVLIFAGKI
LKDQDTLIQHGIHDGLTVHLVIKSQNRPQGQSTQPSNAAGTNTTSASTPRSNSTPISTNSNPFGLGSLGGLAGLSSLGLS
STNFSELQSQMQQQLMASPEMMIQIMENPFVQSMLSNPDLMRQLIMANPQMQQLIQRNPEISHLLNNPDIMRQTLEIARN
PAMMQEMMRNQDLALSNLESIPGGYNALRRMYTDIQEPMLNAAQEQFGGNPFASVGSSSSSGEGTQPSRTENRDPLPNPW
APPPATQSSATTSTTTSTGSGSGNSSSNATGNTVAAANYVASIFSTPGMQSLLQQITENPQLIQNMLSAPYMRSMMQSLS
QNPDLAAQMMLNSPLFTANPQLQEQMRPQLPAFLQQMQNPDTLSAMSNPRAMQALMQIQQGLQTLATEAPGLIPSFTPGV
GVGVLGTAIGPVGPVTSIGPIGPIVPFTPIGPIGPIGPTGPAAPPGSTGSGGPTGPTVSSAAPSETTSPTSESGPNQQFI
QQMVQALAGANAPQLPNPEVRFQQQLEQLNAMGFLNREANLQALIATGGDINAAIERLLGSQPS*
Variant Samples
Additional References at PubMed
PMID:21857683   PMID:24215460   PMID:25398946   PMID:28492532   PMID:30348461  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000022843 CLINVAR
dbSNP (RS) rs387906710 CLINVAR
MedGen C3275459 CLINVAR
NCBI Gene UBQLN2 CLINVAR
OMIM 300264 CLINVAR
  300857 CLINVAR
OMIM Allele 300264.0002 CLINVAR