RGD:11612437 Rat Genome Database

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Variant: RGD:11612437 -  Homo sapiens

RGD ID: 11612437
RS ID: rs528212874
ClinVar ID: CV340797
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127882736  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 1,662,075
GRCh38 16 1,612,074
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_032783.1:g.5035C>T
NC_000016.10:g.1612074G>A
NC_000016.9:g.1662075G>A
NM_014714.3:c.-328C>T
More...
06/14/2016 5 prime utr variant uncertain significance <1 / 1 000 000 Conorenal syndrome; Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000259656 CLINVAR
dbSNP (RS) rs528212874 CLINVAR
MedGen C1849437 CLINVAR
NCBI Gene IFT140 CLINVAR
OMIM 266920 CLINVAR
  614620 CLINVAR
SNOMED CT 254092004 CLINVAR