RGD:329386699 Rat Genome Database

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Variant: RGD:329386699 -  Homo sapiens

RGD ID: 329386699
ClinVar ID: CV2428389
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCDC154  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 1,484,515
GRCh38 16 1,434,514
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001143980.3:c.1898C>G
NC_000016.10:g.1434514G>C
NC_000016.9:g.1484515G>C
NM_001143980.1:c.1898C>G
More... 		01/26/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CCDC154
Accession:NM_001143980
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 633
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSELADSGPSGASAPSQLRAVTLEDLGLLLAGGLASPEPLSLEELSERYESSHPTSTASVPEQDTAKHWNQLEQWVVELQ
AEVACLREHKQRCERATRSLLRELLQVRARVQLQGSELRQLQQEARPAAQAPEKEAPEFSGLQNQMQALDKRLVEVREAL
TRLRRRQVQQEAERRGAEQEAGLRLAKLTDLLQQEEQGREVACGALQKNQEDSSRRVDLEVARMQAQVTKLGEEVSLRFL
KREAKLCGFLQKSFLALEKRMKASESSRLKLEGSLRGELESRWEKLRGLMEERLRALQGQHEESHLLEQCQGLDAAVAQL
TKFVQQNQASLNRVLLAEEKAWDAKGRLEESRAGELAAYVQENLEAAQLAGELARQEMHGELVLLREKSRALEASVAQLA
GQLKELSGHLPALSSRLDLQEQMLGLRLSEAKTEWEGAERKSLEDLARWRKEVTEHLRGVREKVDGLPQQIESVSDKCLL
HKSDSDLRISAEGKAREFKVGALRQELATLLSSVQLLKEDNPGRKIAEMQGKLATFQNQIMKLENCVQANKTIQNLRFNT
EARLRTQEMATLWESVLRLWSEEGPRTPLGSWKALPSLVRPRVFIKDMAPGKVVPMNCWGVYQAVRWLRWKACLIKLRAL
RRPGGVLEKPHSQEQVQQLTPSLFIQK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004253195 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CCDC154 CLINVAR
OMIM 618740 CLINVAR