RGD:12912138 Rat Genome Database

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Variant: RGD:12912138 -  Homo sapiens

RGD ID: 12912138
RS ID: rs1114167296
ClinVar ID: CV244002
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM47  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 34,675,112
GRCh38 X 34,656,995
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_031442.4:c.35G>C
NM_031442.3:c.35G>C
NC_000023.11:g.34656995C>G
NC_000023.10:g.34675112C>G
More... 		01/10/2016 missense variant likely pathogenic Attention deficit hyperactivity disorder; Cerebellar atrophy; Corpus callosum hypoplasia; Dandy-Walker malformation; Global developmental delay; Hypoplasia of the corpus callosum; Hypotonia; Muscular hypotonia; poor muscle tone
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TMEM47
Accession:NM_031442
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASAGSGMEEVPVSVLTPLKLVGLVCIFLALCLDLGAVLSPAWVTADHQYYLSLWESCRKPASLDIWHCESTLSSDWQIA
TLALLLGGAAIILIAFLVGLISICVGSRRRFYRPVAVMLFAAVVLQVCSLVLYPIKFIETVSLKIYHEFNWGYGLAWGAT
IFSFGGAILYCLNPKNYEDYY*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000491018 CLINVAR
dbSNP (RS) rs1114167296 CLINVAR
MedGen C0010964 CLINVAR
NCBI Gene TMEM47 CLINVAR
OMIM 143465 CLINVAR
  220200 CLINVAR
  300698 CLINVAR
SNOMED CT 14447001 CLINVAR