RGD:13500832 Rat Genome Database

Variant: RGD:13500832 - Homo sapiens

RGD ID:

13500832

RS ID:

rs527479144

ClinVar ID:

CV466731

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CCDC78

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	16	774,755
GRCh38	16	724,755

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000016.10:g.724755G>C NC_000016.9:g.774755G>C NP_001026907.2:p.Arg231Gly NG_032932.1:g.6719C>G More...	08/03/2018	intron variant\|missense variant	uncertain significance	Myopathy, centronuclear, 4

Disease Annotations Click to see Annotation Detail View

centronuclear myopathy 4 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CCDC78
Accession:	XM_011522358
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	380

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENAGLQLQLKKLKDEYVLRLQHCA WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPIL TPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_006720843
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	231

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENAGLQLQLKKLK DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAP GNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQ VGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGA VPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_047433602
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	305

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQ GEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENAGLQLQLKKLKDEYVLR LQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAI FDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQAELERE RAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_047433604
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	207

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLESRVLELELRGDGTS QGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPA SPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENAGLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQA PATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTD FSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQ AELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522365
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	309

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVS VQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENAGLQLQLKKLKDE YVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGN PQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVG GKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVP PAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522360
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	365

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTR VATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENAGLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPA TTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFS HREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAE LERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522356
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	380

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENAGLQLQLKKLKDEYVLRLQHCA WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPIL TPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRT GSH*

Gene Symbol:	CCDC78
Accession:	XM_011522369
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	235

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR LGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENAGLQLQL KKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVA YRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFS RSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPW KVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522366
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	306

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE AEIFQLKSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQ ILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQP PSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENAGLQLQLKKLKDEYVL RLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQA IFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKG WPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAK PQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522362
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	380

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENAGLQLQLKKLKDEYVLRLQHCA WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWS GPRWLKSNFLSYRSTWTSTWAGGQRELGVTPGPWSGWNEG*

Gene Symbol:	CCDC78
Accession:	XM_011522359
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	369

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSH PASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENAGLQLQLKKLKDEYVLRLQHCAWQAVEHADGAG QAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLV TDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSP CQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522370
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	179

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE AEIFQLKSEVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDA CVLCSCQGQLRQAEAENAGLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQL ARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQG GTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYV DQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522363
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	380

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENAGLQLQLKKLKDEYVLRLQHCA WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWS GPRWLKSNFLSYRSTWTSTWAGTSTKS*

Gene Symbol:	CCDC78
Accession:	XM_011522367
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	253

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSC QGQLRQAEAENAGLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARS YHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQ GLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGR YKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522357
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	376

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQGEVKWALEH QEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENAGLQLQLKKLKDEYVLRLQHCAWQAV EHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLE PLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCP SSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_006720838
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	305

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQ GEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENAGLQLQLKKLKDEYVLR LQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAI FDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGW PRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKP QHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522364
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	380

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENAGLQLQLKKLKDEYVLRLQHCA WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWS GPRWLKSNFLSYRSTSTKS*

Gene Symbol:	CCDC78
Accession:	XM_047433606
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	80

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENAG LQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHE ELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQK LRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAG AGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	NM_001378030
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	231

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENAGLQLQLKKLK DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAP GNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQ AELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_047433603
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	207

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLESRVLELELRGDGTS QGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPA SPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENAGLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQA PATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTD FSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQ AELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	NM_001031737
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	231

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENAGLQLQLKKLK DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAP GNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQ SWNGSGHSCWSGPRWLKSNFLSYRSTWTSTWAGTSTKS*

Gene Symbol:	CCDC78
Accession:	XM_011522368
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	249

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQL RQAEAENAGLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKR LVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDA ASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHE ILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_017022929
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	380

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENAGLQLQLKKLKDEYVLRLQHCA WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQAELERERAQLL VRATMAEEQLSELQEYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522361
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	380

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENAGLQLQLKKLKDEYVLRLQHCA WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQAELERERAQLL VRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	NM_001378031
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	231

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENAGLQLQLKKLK DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRGL DAASWAQIHQKLRDFSRSTQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPA KPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_047433605
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	84

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEA ENAGLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLS RRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQ IHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLR KLAGAGDPWKVGAVPPAKPQHPRTGSH*

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

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

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

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

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

Gene Symbol:	CCDC78
Accession:	NM_001378033
Location:	INTRON

Gene Symbol:	CCDC78
Accession:	XM_047433607
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000540665	CLINVAR
dbSNP (RS)	rs527479144	CLINVAR
MedGen	C4707232	CLINVAR
NCBI Gene	CCDC78	CLINVAR
OMIM	614666	CLINVAR
	614807	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:13500832 - Homo sapiens

Imported Disease Annotations - ClinVar