RGD:13470525 Rat Genome Database

Variant: RGD:13470525 - Homo sapiens

RGD ID:

13470525

RS ID:

rs760280521

ClinVar ID:

CV465943

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CCDC78

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	16	772,948
GRCh38	16	722,948

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
LRG_705p2:p.Gln425= NP_001364962.1:p.Gln236= NM_001378031.1:c.1095G>A NM_001378030.1:c.1275G>A More...	10/27/2021	missense variant	likely benign\|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_011522364
Location:	EXON
Amino Acid Prediction:	R to K (nonsynonymous)
Amino Acid Position:	573

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

Gene Symbol:	CCDC78
Accession:	XM_011522357
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	594

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

Gene Symbol:	CCDC78
Accession:	XM_011522365
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	527

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

Gene Symbol:	CCDC78
Accession:	XM_011522370
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	397

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

Gene Symbol:	CCDC78
Accession:	XM_047433606
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	298

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

Gene Symbol:	CCDC78
Accession:	XM_011522362
Location:	EXON
Amino Acid Prediction:	R to K (nonsynonymous)
Amino Acid Position:	573

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

Gene Symbol:	CCDC78
Accession:	NM_001378030
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	425

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

Gene Symbol:	CCDC78
Accession:	XM_006720843
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	449

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

Gene Symbol:	CCDC78
Accession:	XM_011522356
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	598

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

Gene Symbol:	CCDC78
Accession:	XM_047433605
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	302

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

Gene Symbol:	CCDC78
Accession:	XM_006720838
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	523

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

Gene Symbol:	CCDC78
Accession:	XM_011522360
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	583

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

Gene Symbol:	CCDC78
Accession:	XM_011522359
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	587

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

Gene Symbol:	CCDC78
Accession:	NM_001378033
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	236

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACEHADGAGQAPATTA LRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHRE DQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQAELERERAQLLVRATMAEEQLSELQEYVD QHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_047433603
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	425

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

Gene Symbol:	CCDC78
Accession:	XM_011522368
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	467

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

Gene Symbol:	CCDC78
Accession:	XM_011522366
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	524

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

Gene Symbol:	CCDC78
Accession:	NM_001031737
Location:	EXON
Amino Acid Prediction:	R to K (nonsynonymous)
Amino Acid Position:	424

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLK DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAP GNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQ SWNGSGHSCWSGPRWLKSNFLSYKSTWTSTWAGTSTKS*

Gene Symbol:	CCDC78
Accession:	XM_047433604
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	425

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

Gene Symbol:	CCDC78
Accession:	XM_011522361
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	574

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

Gene Symbol:	CCDC78
Accession:	XM_011522369
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	453

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

Gene Symbol:	CCDC78
Accession:	XM_011522367
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	471

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

Gene Symbol:	CCDC78
Accession:	XM_011522358
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	598

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

Gene Symbol:	CCDC78
Accession:	XM_017022929
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	574

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

Gene Symbol:	CCDC78
Accession:	XM_047433602
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	499

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

Gene Symbol:	CCDC78
Accession:	XM_011522363
Location:	EXON
Amino Acid Prediction:	R to K (nonsynonymous)
Amino Acid Position:	573

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

Gene Symbol:	CCDC78
Accession:	NM_001378031
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	365

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

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

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

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

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

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

Gene Symbol:	CCDC78
Accession:	XM_047433607
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000546211	CLINVAR
	RCV003945300	CLINVAR
dbSNP (RS)	rs760280521	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:13470525 - Homo sapiens

Imported Disease Annotations - ClinVar