RGD:11647948 Rat Genome Database

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Variant: RGD:11647948 -  Homo sapiens

RGD ID: 11647948
RS ID: rs886054156
ClinVar ID: CV349288
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 11,172,956
GRCh38 19 11,062,280
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001128849.1:c.*464G>T
NC_000019.10:g.11062280G>T
NC_000019.9:g.11172956G>T
NM_003072.4:c.*464G>T
More... 		06/14/2016 3 prime utr variant uncertain significance Fifth digit syndrome; HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES; Mental retardation with absent fifth fingernail and terminal phalanx
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000279409 CLINVAR
dbSNP (RS) rs886054156 CLINVAR
MedGen C0265338 CLINVAR
NCBI Gene SMARCA4 CLINVAR
OMIM 135900 CLINVAR
  603254 CLINVAR
SNOMED CT 10007009 CLINVAR