RGD:13607462 Rat Genome Database

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Variant: RGD:13607462 -  Homo sapiens

RGD ID: 13607462
RS ID: rs1556885809
ClinVar ID: CV535183
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMC1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 53,407,936
GRCh38 X 53,381,015
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_773t1:c.3441+3G>A
LRG_773t2:c.3507+3G>A
NM_001281463.1:c.3441+3G>A
LRG_773:g.46656G>A
More... 		01/10/2020 intron variant uncertain significance Cornelia de Lange syndrome 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMC1A
Accession:NM_006306
Location:INTRON

Gene Symbol:SMC1A
Accession:NM_001281463
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000639416 CLINVAR
dbSNP (RS) rs1556885809 CLINVAR
MedGen C1802395 CLINVAR
NCBI Gene SMC1A CLINVAR
OMIM 300040 CLINVAR
  300590 CLINVAR
SNOMED CT 55016009 CLINVAR