RGD:126729993 Rat Genome Database

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Variant: RGD:126729993 -  Homo sapiens

RGD ID: 126729993
RS ID: rs559473497
ClinVar ID: CV1021913
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCDC8  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 46,915,041
GRCh38 19 46,411,784
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_031956.1:g.6879C>T
NC_000019.10:g.46411784G>A
NC_000019.9:g.46915041G>A
LRG_1258p1:p.Gln343Ter
More... 		01/06/2023 nonsense pathogenic|likely pathogenic Three M syndrome 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CCDC8
Accession:NM_032040
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 343
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQIGEDVDYLLIPREVRLAGGVWRVISKPATKEAEFRERLTQFLEEEGRTLEDVARIMEKSTPHPPQPPKKPKEPRVRR
RVQQMVTPPPRLVVGTYDSSNASDSEFSDFETSRDKSRQGPRRGKKVRKMPVSYLGSKFLGSDLESEDDEELVEAFLRRQ
EKQPSAPPARRRVNLPVPMFEDNLGPQLSKADRWREYVSQVSWGKLKRRVKGWAPRAGPGVGEARLASTAVESAGVSSAP
EGTSPGDRLGNAGDVCVPQASPRRWRPKINWASFRRRRKEQTAPTGQGADIEADQGGEAADSQREEAIADQREGAAGNQR
AGAPADQGAEAADNQREEAADN*RAGAPAEEGAEAADNQREEAADNQRAEAPADQRSQGTDNHREEAADNQRAEAPADQG
SEVTDNQREEAVHDQRERAPAVQGADNQRAQARAGQRAEAAHNQRAGAPGIQEAEVSAAQGTTGTAPGARARKQVKTVRF
QTPGRFSWFCKRRRAFWHTPRLPTLPKRVPRAGEARNLRVLRAEARAEAEQGEQEDQL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003123533 CLINVAR
dbSNP (RS) rs559473497 CLINVAR
MedGen C3280146 CLINVAR
NCBI Gene CCDC8 CLINVAR
OMIM 614145 CLINVAR
  614205 CLINVAR