RGD:11621069 Rat Genome Database

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Variant: RGD:11621069 -  Homo sapiens

RGD ID: 11621069
RS ID: rs1057515952
ClinVar ID: CV339429
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMC1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 53,401,332
GRCh38 X 53,374,411
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_773t1:c.*5692G>A
LRG_773t2:c.*5692G>A
NM_001281463.1:c.*5692G>A
LRG_773:g.53260G>A
More... 		01/12/2018 3 prime utr 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:3UTRS;EXON

Gene Symbol:SMC1A
Accession:NM_001281463
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000343963 CLINVAR
dbSNP (RS) rs1057515952 CLINVAR
MedGen C1802395 CLINVAR
NCBI Gene SMC1A CLINVAR
OMIM 300040 CLINVAR
  300590 CLINVAR
SNOMED CT 55016009 CLINVAR