RGD:9850307 Rat Genome Database

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Variant: RGD:9850307 -  Homo sapiens

RGD ID: 9850307
RS ID: rs730882201
ClinVar ID: CV181431
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARL14EP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 30,358,212
GRCh38 11 30,336,665
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_034234.1:g.18564G>A
NC_000011.10:g.30336665G>A
NC_000011.9:g.30358212G>A
NP_689529.1:p.Gly218Glu
More... 		12/01/2014 missense variant likely pathogenic|no classifications from unflagged records Abnormal facial shape; Dysmorphic facial features; Dysmorphic facies; Microcephaly; Microcephaly (disease); none provided; Truncal obesity
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:ARL14EP
Accession:XM_005252792
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATTKGLCSRMTSPLYEGLGNHCFKRNIREGRTAKALRSLQFTNPGRQTEFAPETGKREKRRLTKNATAGSDRQVIPAKS
KVYDSQGLLIFSGMDLCDCLDEDCLECFYACPACGSTKCGAECRCDRKWLYEQIEIEGGEIIHNKHAG*

Gene Symbol:ARL14EP
Accession:NM_152316
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMDPCSVGVQLRTTNECHKTYYTRHTGFKTLQELSSNDMLLLQLRTGMTLSGNNTICFHHVKIYIDRFEDLQKSCCDPFN
IHKKLAKKNLHVIDLDDATFLSAKFGRQLVPGWKLCPKCTQIINGSVDVDTEDRQKRKPESDGRTAKALRSLQFTNPGRQ
TEFAPETGKREKRRLTKNATAGSDRQVIPAKSKVYDSQGLLIFSGMDLCDCLDEDCLECFYACPACGSTKCGAECRCDRK
WLYEQIEIEGGEIIHNKHAG*
Variant Samples
Additional References at PubMed
PMID:25558065   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000162105 CLINVAR
  RCV000171460 CLINVAR
dbSNP (RS) rs730882201 CLINVAR
MedGen C0557874 CLINVAR
  C3661900 CLINVAR
NCBI Gene ARL14EP CLINVAR
OMIM 612295 CLINVAR
SNOMED CT 248200007 CLINVAR