rs757673905 Rat Genome Database

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Variant: rs757673905 -  Homo sapiens

RGD ID: 14725509
RS ID: rs757673905
ClinVar ID: CV650745
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126805688  YARS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 33,252,051
GRCh38 1 32,786,450
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_003680.3:c.821-3T>C
LRG_273t1:c.821-3T>C
LRG_273:g.36583T>C
NG_008408.1:g.36583T>C
More... 		02/08/2024 intron variant uncertain significance AllHighlyPenetrant; CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV650745HumanCharcot-Marie-Tooth disease dominant intermediate C  IAGP 8554872ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate CClinVarPMID:17576681|PMID:28492532|PMID:9536098
Gene Symbol:YARS1
Accession:NM_003680
Location:INTRON

Gene Symbol:YARS1
Accession:XM_011542347
Location:INTRON

.
PMID:9536098   PMID:17576681   PMID:28492532  



1 to 9 of 9 rows
Database
Acc Id
Source(s)
ClinVar RCV000815224 CLINVAR
  RCV003994127 CLINVAR
dbSNP (RS) rs757673905 CLINVAR
MedGen C1842237 CLINVAR
  CN169374 CLINVAR
NCBI Gene LOC126805688 CLINVAR
  YARS1 CLINVAR
OMIM 603623 CLINVAR
  608323 CLINVAR
1 to 9 of 9 rows