RGD:156222151 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:156222151 -  Homo sapiens

RGD ID: 156222151
ClinVar ID: CV2208922
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129930347  YBX1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 43,148,294
GRCh38 1 42,682,623
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004559.5:c.58C>T
NC_000001.11:g.42682623C>T
NC_000001.10:g.43148294C>T
NM_004559.3:c.58C>T
More...
11/17/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:YBX1
Accession:NM_004559
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSEAETQQPPAAPPAAPAFSAADTKPGTTGSGAGSGGPGGLTSAAPAGGDKKVIATKVLGTVKWFNVRNGYGFINRNDT
KEDVFVHQTAIKKNNPRKYLRSVGDGETVEFDVVEGEKGAEAANVTGPGGVPVQGSKYAADRNHYRRYPRRRGPPRNYQQ
NYQNSESGEKNEGSESAPEGQAQQRRPYRRRRFPPYYMRRPYGRRPQYSNPPVQGEVMEGADNQGAGEQGRPVRQNMYRG
YRPRFRRGPPRQRQPREDGNEEDKENQGDETQGQQPPQRRYRRNFNYRRRRPENPKPQDGKETKAADPPAENSSAPEAEQ
GGAE*

Gene Symbol:YBX1
Accession:XM_047421495
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSEAETQQPPAAPPAAPAFSAADTKPGTTGSGAGSGGPGGLTSAAPAGGDKKVIATKVLGTVKWFNVRNGYGFINRNDT
KEDVFVHQGAEAANVTGPGGVPVQGSKYAADRNHYRRYPRRRGPPRNYQQNYQNSESGEKNEGSESAPEGQAQQRRPYRR
RRFPPYYMRRPYGRRPQYSNPPVQGEVMEGADNQGAGEQGRPVRQNMYRGYRPRFRRGPPRQRQPREDGNEEDKENQGDE
TQGQQPPQRRYRRNFNYRRRRPENPKPQDGKETKAADPPAENSSAPEAEQGGAE*

Gene Symbol:YBX1
Accession:NR_132737
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004085285 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOC129930347 CLINVAR
  YBX1 CLINVAR
OMIM 154030 CLINVAR