RGD:21405314 Rat Genome Database

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Variant: RGD:21405314 -  Homo sapiens

RGD ID: 21405314
RS ID: rs751922029
ClinVar ID: CV672022
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFAP418  CFAP418-AS1  LOC130000784  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 96,281,288
GRCh38 8 95,269,060
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363260.1:c.130C>T
NM_177965.4:c.130C>T
NC_000008.11:g.95269060G>A
NC_000008.10:g.96281288G>A
More... 		nonsense likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CFAP418
Accession:NM_177965
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDLDELLDEVESKFCTPDLLRRGMVEQPKGCGGGTHSSDRNKAKAKETLRSTETFKKEDDLDSLINEILEEPNLDKKP
SKLKSKSSGNTSVRASIEGLGKSCSPVYLGGSSIPCGIGTNISWRACDHLRCIACDFLVVSYDDYMWDKSCDYLFFRNNM
PEFHKLKAKLIKKKGTRAYACQCSWRTIEEVTDLQTDHQLRWVCGKH*

Gene Symbol:CFAP418
Accession:NM_001363260
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDLDELLDEVESKFCTPDLLRRGMVEQPKGCGGGTHSSDRNKAKAKETLRSTETFKKEDDLDSLINEILEEPNLDKKP
SKLKSKSSGNTSVRASIEGLGKSCSPVYLGGSSIPCGIGTNISWRNNMPEFHKLKAKLIKKKGTRAYACQCSWRTIEEVT
DLQTDHQLRWVCGKH*

Gene Symbol:CFAP418-AS1
Accession:NR_038201
Location:INTRON;NON-CODING

Gene Symbol:CFAP418-AS1
Accession:NR_038208
Location:INTRON;NON-CODING

Gene Symbol:CFAP418-AS1
Accession:NR_038207
Location:INTRON;NON-CODING

Gene Symbol:CFAP418-AS1
Accession:NR_038203
Location:INTRON;NON-CODING

Gene Symbol:CFAP418-AS1
Accession:NR_038205
Location:INTRON;NON-CODING

Gene Symbol:CFAP418-AS1
Accession:NR_038209
Location:INTRON;NON-CODING

Gene Symbol:CFAP418-AS1
Accession:NR_038204
Location:INTRON;NON-CODING

Gene Symbol:CFAP418-AS1
Accession:NR_038202
Location:INTRON;NON-CODING

Gene Symbol:CFAP418-AS1
Accession:NR_038206
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001000091 CLINVAR
dbSNP (RS) rs751922029 CLINVAR
MedGen C4319932 CLINVAR
NCBI Gene C8orf37 CLINVAR
  C8orf37-AS1 CLINVAR
  LOC130000784 CLINVAR
OMIM 614477 CLINVAR
  617406 CLINVAR