RGD:13470979 Rat Genome Database

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Variant: RGD:13470979 -  Homo sapiens

RGD ID: 13470979
RS ID: rs79863898
ClinVar ID: CV441923
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCDC78  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 774,312
GRCh38 16 724,312
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.10:g.724312C>T
NG_032932.1:g.7162G>A
NC_000016.9:g.774312C>T
NM_001031737.3:c.953+10G>A
More... 		10/31/2019 intron variant benign|likely benign AllHighlyPenetrant; Myopathy, centronuclear, 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CCDC78
Accession:XM_011522368
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522363
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_047433606
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_047433605
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_006720838
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522359
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_017022929
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522356
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_047433602
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522364
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522362
Location:INTRON

Gene Symbol:CCDC78
Accession:NM_001378030
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_047433604
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522365
Location:INTRON

Gene Symbol:CCDC78
Accession:NM_001378033
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522360
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522370
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522361
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522369
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522367
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_047433607
Location:INTRON

Gene Symbol:CCDC78
Accession:NM_001378031
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_047433603
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522357
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522358
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522366
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_006720843
Location:INTRON

Gene Symbol:CCDC78
Accession:NM_001031737
Location:INTRON

Gene Symbol:CCDC78
Accession:NR_165383
Location:INTRON;NON-CODING

Gene Symbol:CCDC78
Accession:NR_165385
Location:INTRON;NON-CODING

Gene Symbol:CCDC78
Accession:NR_165384
Location:INTRON;NON-CODING

Gene Symbol:CCDC78
Accession:NR_165386
Location:INTRON;NON-CODING

Gene Symbol:CCDC78
Accession:NR_165382
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000518250 CLINVAR
  RCV000556794 CLINVAR
  RCV003935361 CLINVAR
dbSNP (RS) rs79863898 CLINVAR
MedGen C4707232 CLINVAR
  CN169374 CLINVAR
NCBI Gene CCDC78 CLINVAR
OMIM 614666 CLINVAR
  614807 CLINVAR