RGD:13468145 Rat Genome Database

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Variant: RGD:13468145 -  Homo sapiens

RGD ID: 13468145
RS ID: rs754758325
ClinVar ID: CV471511
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MORC2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 31,329,024
GRCh38 22 30,933,037
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014941.3:c.2195-7T>C
NG_046752.1:g.40461T>C
NC_000022.11:g.30933037A>G
NC_000022.10:g.31329024A>G
More... 		03/29/2018 intron variant likely benign CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Z; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MORC2
Accession:NM_001303257
Location:INTRON

Gene Symbol:MORC2
Accession:NM_001303256
Location:INTRON

Gene Symbol:MORC2
Accession:NM_014941
Location:INTRON

Gene Symbol:MORC2
Accession:XM_017028667
Location:INTRON

Gene Symbol:MORC2
Accession:XM_047441204
Location:INTRON

Gene Symbol:MORC2
Accession:XM_047441203
Location:INTRON

Gene Symbol:MORC2
Accession:XM_011530004
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000557415 CLINVAR
dbSNP (RS) rs754758325 CLINVAR
MedGen C5569025 CLINVAR
NCBI Gene MORC2 CLINVAR
OMIM 616661 CLINVAR
  616688 CLINVAR