RGD:155939947 Rat Genome Database

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Variant: RGD:155939947 -  Homo sapiens

RGD ID: 155939947
ClinVar ID: CV2071541
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCDC78  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 774,303
GRCh38 16 724,303
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001031737.3:c.953+19G>A
NM_001378031.1:c.953+19G>A
LRG_705:g.7171G>A
NG_032932.1:g.7171G>A
More... 		07/07/2022 intron variant likely benign Myopathy, centronuclear, 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CCDC78
Accession:NM_001031737
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_006720838
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_006720843
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522363
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522361
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522369
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522368
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522367
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522365
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522360
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522359
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522357
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522358
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522356
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522370
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522366
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522364
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_011522362
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_017022929
Location:INTRON

Gene Symbol:CCDC78
Accession:NM_001378033
Location:INTRON

Gene Symbol:CCDC78
Accession:NM_001378031
Location:INTRON

Gene Symbol:CCDC78
Accession:NM_001378030
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_047433606
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_047433605
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_047433604
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_047433603
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_047433602
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_047433607
Location:INTRON

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002861704 CLINVAR
MedGen C4707232 CLINVAR
NCBI Gene CCDC78 CLINVAR
OMIM 614666 CLINVAR
  614807 CLINVAR