RGD:14693361 Rat Genome Database

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Variant: RGD:14693361 -  Homo sapiens

RGD ID: 14693361
RS ID: rs1563469311
ClinVar ID: CV620310
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: CFAP418  
Reference Nucleotide: -
Variant Nucleotide: TG
Position
Assembly Chr Position
GRCh37 8 96,259,869
GRCh38 8 95,247,641
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_177965.4:c.599_600insCA
NG_032804.1:g.26593_26594insCA
NC_000008.11:g.95247641_95247642insTG
NC_000008.10:g.96259869_96259870insTG
More... 		07/27/2017 frameshift variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:CFAP418
Accession:NM_177965
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDLDELLDEVESKFCTPDLLRRGMVEQPKGCGGGTHSSDRNQAKAKETLRSTETFKKEDDLDSLINEILEEPNLDKKP
SKLKSKSSGNTSVRASIEGLGKSCSPVYLGGSSIPCGIGTNISWRACDHLRCIACDFLVVSYDDYMWDKSCDYLFFRNNM
PEFHKLKAKLIKKKGTRAYACQCSWRTIEEVTDLQTDHQLRWVCGKH*

Gene Symbol:CFAP418
Accession:NM_001363260
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDLDELLDEVESKFCTPDLLRRGMVEQPKGCGGGTHSSDRNQAKAKETLRSTETFKKEDDLDSLINEILEEPNLDKKP
SKLKSKSSGNTSVRASIEGLGKSCSPVYLGGSSIPCGIGTNISWRNNMPEFHKLKAKLIKKKGTRAYACQCSWRTIEEVT
DLQTDHQLRWVCGKH*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000778868 CLINVAR
dbSNP (RS) rs1563469311 CLINVAR
NCBI Gene C8orf37 CLINVAR
OMIM 614477 CLINVAR