RGD:11547011 Rat Genome Database

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Variant: RGD:11547011 -  Homo sapiens

RGD ID: 11547011
RS ID: rs2279517
ClinVar ID: CV257153
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCDC8  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 46,914,547
GRCh38 19 46,411,290
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.7373G>C
NC_000019.10:g.46411290C>G
NC_000019.9:g.46914547C>G
NP_114429.2:p.Lys507Asn
More... 		12/17/2021 missense variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:CCDC8
Accession:NM_032040
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 507
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQIGEDVDYLLIPREVRLAGGVWRVISKPATKEAEFRERLTQFLEEEGRTLEDVARIMEKSTPHPPQPPKKPKEPRVRR
RVQQMVTPPPRLVVGTYDSSNASDSEFSDFETSRDKSRQGPRRGKKVRKMPVSYLGSKFLGSDLESEDDEELVEAFLRRQ
EKQPSAPPARRRVNLPVPMFEDNLGPQLSKADRWREYVSQVSWGKLKRRVKGWAPRAGPGVGEARLASTAVESAGVSSAP
EGTSPGDRLGNAGDVCVPQASPRRWRPKINWASFRRRRKEQTAPTGQGADIEADQGGEAADSQREEAIADQREGAAGNQR
AGAPADQGAEAADNQREEAADNQRAGAPAEEGAEAADNQREEAADNQRAEAPADQRSQGTDNHREEAADNQRAEAPADQG
SEVTDNQREEAVHDQRERAPAVQGADNQRAQARAGQRAEAAHNQRAGAPGIQEAEVSAAQGTTGTAPGARARKQVKTVRF
QTPGRFSWFCKRRRAFWHTPRLPTLPNRVPRAGEARNLRVLRAEARAEAEQGEQEDQL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000247205 CLINVAR
  RCV001618470 CLINVAR
dbSNP (RS) rs2279517 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CCDC8 CLINVAR
OMIM 614145 CLINVAR