RGD:11631753 Rat Genome Database

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Variant: RGD:11631753 -  Homo sapiens

RGD ID: 11631753
RS ID: rs778382794
ClinVar ID: CV349009
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UBQLN2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 56,590,549
GRCh38 X 56,564,116
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_013444.3:c.243A>G
LRG_665t1:c.243A>G
LRG_665:g.5524A>G
NG_016249.1:g.5524A>G
More... 		06/05/2021 synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance 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: L to L (synonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAENGESSGPPRPSRGPAAAQGSAAAPAEPKIIKVTVKTPKEKEEFAVPENSSVQQFKEAISKRFKSQTDQLVLIFAGKI
LKDQDTLIQHGIHDGLTVHLVIKSQNRPQGQSTQPSNAAGTNTTSASTPRSNSTPISTNSNPFGLGSLGGLAGLSSLGLS
STNFSELQSQMQQQLMASPEMMIQIMENPFVQSMLSNPDLMRQLIMANPQMQQLIQRNPEISHLLNNPDIMRQTLEIARN
PAMMQEMMRNQDLALSNLESIPGGYNALRRMYTDIQEPMLNAAQEQFGGNPFASVGSSSSSGEGTQPSRTENRDPLPNPW
APPPATQSSATTSTTTSTGSGSGNSSSNATGNTVAAANYVASIFSTPGMQSLLQQITENPQLIQNMLSAPYMRSMMQSLS
QNPDLAAQMMLNSPLFTANPQLQEQMRPQLPAFLQQMQNPDTLSAMSNPRAMQALMQIQQGLQTLATEAPGLIPSFTPGV
GVGVLGTAIGPVGPVTPIGPIGPIVPFTPIGPIGPIGPTGPAAPPGSTGSGGPTGPTVSSAAPSETTSPTSESGPNQQFI
QQMVQALAGANAPQLPNPEVRFQQQLEQLNAMGFLNREANLQALIATGGDINAAIERLLGSQPS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000385557 CLINVAR
  RCV001167821 CLINVAR
dbSNP (RS) rs778382794 CLINVAR
MedGen C3275459 CLINVAR
  CN239175 CLINVAR
NCBI Gene UBQLN2 CLINVAR
OMIM 300264 CLINVAR
  300857 CLINVAR