RGD:404978329 Rat Genome Database

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Variant: RGD:404978329 -  Homo sapiens

RGD ID: 404978329
ClinVar ID: CV3127388
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MIR6857  SMC1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 53,432,610
GRCh38 X 53,405,678
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_773:g.21993C>T
NG_006988.2:g.21993C>T
NC_000023.11:g.53405678G>A
NC_000023.10:g.53432610G>A
More... 		07/14/2023 intron variant likely benign Cornelia de Lange syndrome 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MIR6857
Accession:NR_106916
Location:EXON;NON-CODING

Gene Symbol:SMC1A
Accession:NM_006306
Location:INTRON

Gene Symbol:SMC1A
Accession:NM_001281463
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003825612 CLINVAR
MedGen C1802395 CLINVAR
NCBI Gene MIR6857 CLINVAR
  SMC1A CLINVAR
OMIM 300040 CLINVAR
  300590 CLINVAR
SNOMED CT 55016009 CLINVAR