RGD:156325303 Rat Genome Database

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Variant: RGD:156325303 -  Homo sapiens

RGD ID: 156325303
ClinVar ID: CV2195292
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCDC154  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 1,493,837
GRCh38 16 1,443,836
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.184G>A
NG_007567.1:g.36249G>A
NC_000016.10:g.1443836C>T
NC_000016.9:g.1493837C>T
More... 		10/04/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CCDC154
Accession:NM_001143980
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSELADSGPSGASAPSQLRAVTLEDLGLLLAGGLASPEPLSLEELSERYESSHPTSTASVPKQDTAKHWNQLEQWVVELQ
AEVACLREHKQRCERATRSLLRELLQVRARVQLQGSELRQLQQEARPAAQAPEKEAPEFSGLQNQMQALDKRLVEVREAL
TRLRRRQVQQEAERRGAEQEAGLRLAKLTDLLQQEEQGREVACGALQKNQEDSSRRVDLEVARMQAQVTKLGEEVSLRFL
KREAKLCGFLQKSFLALEKRMKASESSRLKLEGSLRGELESRWEKLRGLMEERLRALQGQHEESHLLEQCQGLDAAVAQL
TKFVQQNQASLNRVLLAEEKAWDAKGRLEESRAGELAAYVQENLEAAQLAGELARQEMHGELVLLREKSRALEASVAQLA
GQLKELSGHLPALSSRLDLQEQMLGLRLSEAKTEWEGAERKSLEDLARWRKEVTEHLRGVREKVDGLPQQIESVSDKCLL
HKSDSDLRISAEGKAREFKVGALRQELATLLSSVQLLKEDNPGRKIAEMQGKLATFQNQIMKLENCVQANKTIQNLRFNT
EARLRTQEMATLWESVLRLWSEEGPRTPLGSWKALPSLVRPRVFIKDMAPGKVVPMNCWGVYQAVRWLRWKASLIKLRAL
RRPGGVLEKPHSQEQVQQLTPSLFIQK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004080219 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CCDC154 CLINVAR
OMIM 618740 CLINVAR