RGD:11630212 Rat Genome Database

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Variant: RGD:11630212 -  Homo sapiens

RGD ID: 11630212
RS ID: rs148128199
ClinVar ID: CV352923
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMC1A  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 53,404,168
GRCh38 X 53,377,247
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_773t1:c.*2856A>T
LRG_773t2:c.*2856A>T
NM_001281463.1:c.*2856A>T
LRG_773:g.50424A>T
More... 		01/13/2018 3 prime utr variant benign|likely benign Cornelia de Lange syndrome 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMC1A
Accession:NM_001281463
Location:3UTRS;EXON

Gene Symbol:SMC1A
Accession:NM_006306
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000343474 CLINVAR
dbSNP (RS) rs148128199 CLINVAR
MedGen C1802395 CLINVAR
NCBI Gene SMC1A CLINVAR
OMIM 300040 CLINVAR
  300590 CLINVAR
SNOMED CT 55016009 CLINVAR