RGD:11599553 Rat Genome Database

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Variant: RGD:11599553 -  Homo sapiens

RGD ID: 11599553
RS ID: rs143748636
ClinVar ID: CV315633
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFAP418  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 96,259,941
GRCh38 8 95,247,713
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032804.1:g.26522A>G
NC_000008.11:g.95247713T>C
NC_000008.10:g.96259941T>C
NP_808880.1:p.Thr176=
More... 		11/20/2020 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; none provided; Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CFAP418
Accession:NM_177965
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDLDELLDEVESKFCTPDLLRRGMVEQPKGCGGGTHSSDRNQAKAKETLRSTETFKKEDDLDSLINEILEEPNLDKKP
SKLKSKSSGNTSVRASIEGLGKSCSPVYLGGSSIPCGIGTNISWRACDHLRCIACDFLVVSYDDYMWDKSCDYLFFRNNM
PEFHKLKAKLIKKKGTRAYACQCSWRTIEEVTDLQTDHQLRWVCGKH*

Gene Symbol:CFAP418
Accession:NM_001363260
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDLDELLDEVESKFCTPDLLRRGMVEQPKGCGGGTHSSDRNQAKAKETLRSTETFKKEDDLDSLINEILEEPNLDKKP
SKLKSKSSGNTSVRASIEGLGKSCSPVYLGGSSIPCGIGTNISWRNNMPEFHKLKAKLIKKKGTRAYACQCSWRTIEEVT
DLQTDHQLRWVCGKH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000323905 CLINVAR
  RCV000625262 CLINVAR
  RCV000954269 CLINVAR
  RCV001701000 CLINVAR
dbSNP (RS) rs143748636 CLINVAR
MedGen C0035334 CLINVAR
  C3281045 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene C8orf37 CLINVAR
OMIM 268000 CLINVAR
  614477 CLINVAR
  614500 CLINVAR
SNOMED CT 28835009 CLINVAR