RGD:26920453 Rat Genome Database

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Variant: RGD:26920453 -  Homo sapiens

RGD ID: 26920453
RS ID: rs1180068230
ClinVar ID: CV848665
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFAP298  CFAP298-TCP10L  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 33,974,186
GRCh38 21 32,601,876
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001350337.2:c.*348G>A
NM_001350334.2:c.563G>A
NM_001350338.2:c.666+1285G>A
NM_001350336.2:c.764G>A
More... 		11/22/2019 3 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CFAP298
Accession:NM_001350337
Location:3UTRS;EXON

Gene Symbol:CFAP298
Accession:NM_001350335
Location:3UTRS;EXON

Gene Symbol:CFAP298
Accession:NM_001350336
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLLHVKRGDESQFLLQAPGSTELEELTVQVARVYNGRLKVQRLCSEMEELAEHGIFLPPNMQGLTDDQIEELKLKDEWG
EKCVPSGGAVFKKDDIGRRNGQAPNEKMKQVLKKTIEEAKAIISKKQVEAGVCVTMEMVKDALDQLRGAVMIVYPMGLPP
YDPIRMEFENKEDLSGTQAGLNVIKEAEAQLWWAAKELRRTKKLSDYVGKNEKTKIIAKIQQRLEENDDDAYLNSPWADN
TALKRHFHGVKDIKLRPR*

Gene Symbol:CFAP298
Accession:NM_021254
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLLHVKRGDESQFLLQAPGSTELEELTVQVARVYNGRLKVQRLCSEMEELAEHGIFLPPNMQGLTDDQIEELKLKDEWG
EKCVPSGGAVFKKDDIGRRNGQAPNEKMKQVLKKTIEEAKAIISKKQVEAGVCVTMEMVKDALDQLRGAVMIVYPMGLPP
YDPIRMEFENKEDLSGTQAGLNVIKEAEAQLWWAAKELRRTKKLSDYVGKNEKTKIIAKIQQRGQGAPAREPIISSEEQK
QLMLYYHRRQEELKRLEENDDDAYLNSPWADNTALKRHFHGVKDIKLRPR*

Gene Symbol:CFAP298
Accession:NM_001350334
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGVKNAYPAEVQCLKRMILDEGMGKKQVEAGVCVTMEMVKDALDQLRGAVMIVYPMGLPPYDPIRMEFENKEDLSGTQA
GLNVIKEAEAQLWWAAKELRRTKKLSDYVGKNEKTKIIAKIQQRGQGAPAREPIISSEEQKQLMLYYHRRQEELKRLEEN
DDDAYLNSPWADNTALKRHFHGVKDIKLRPR*

Gene Symbol:CFAP298-TCP10L
Accession:NM_001350338
Location:INTRON

Gene Symbol:CFAP298-TCP10L
Accession:NR_146638
Location:INTRON;NON-CODING

Gene Symbol:CFAP298-TCP10L
Accession:NR_146639
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001047686 CLINVAR
dbSNP (RS) rs1180068230 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CFAP298 CLINVAR
  CFAP298-TCP10L CLINVAR
OMIM 615494 CLINVAR