RGD:156075114 Rat Genome Database

Variant: RGD:156075114 - Homo sapiens

RGD ID:

156075114

ClinVar ID:

CV2273229

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CCDC33

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	15	74,565,183
GRCh38	15	74,272,842

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
NM_025055.5:c.710C>T NG_054754.1:g.75138C>T NC_000015.10:g.74272842C>T NC_000015.9:g.74565183C>T More...	04/07/2022	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	CCDC33
Accession:	XM_017022630
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	455

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAFRGPEPWVSASLLRQRLKAEEKTLDLEFEVLSVGFNEAGRYALRLSAENPLQVGSGAGVQLQVNDGDPFPACSAITDV IEQQEPGQSLTLTRSKFIFTLPKGFCKNDGQHDAQLHVEALRLDEPLGRAAQRVGEAIFPIYPRPDQPRMNPKAQDHEDL YRYCGNLALLRASTDPTARHCGSLAYSVAFHVHRGPQPPVSDSPPRAGQPELMSPCPEPQLPILQNTEDPEEPLIASQST EPEIGHLSPSKKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSSKAVTSVTSEPTRAPIWGDTVNVEIQAED AGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEATAKTQLYATVVRKSSFIPRYIGCNHMALE IFLRGVNEPLANNPNPIVVIARVVPNYKEFKVSQANRDLASVGLPITPLSFPIPFMMNFDVPRVSQNGCPQLSKPGGPPE QPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGSQPWTLNQPLGISVLPLKSRLYQKMLTGKGLDGLHVERLPIMD TSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTIQESWSKDTVSSTMDLSTSTPREAEEEPL VPEMSHDTRVPWGTLLWKILRKGPRQGHQSTGKSKPSSSQDLTSSTNSLLIFPWHFCTFLEHVPSDE*

Gene Symbol:	CCDC33
Accession:	XM_005254692
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	237

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLKNKKNTEDPEEPLIASQSTEPEIGHLSPSKKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSSKAVTSV TSEPTRAPIWGDTVNVEIQAEDAGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEATAKTQLY ATVVRKSSFIPRYIGCNHMALEIFLRGVNEPLANNPNPIVVIARVVPNYKEFKVSQANRDLASVGLPITPLSFPIPFMMN FDVPRVSQNGCPQLSKPGGPPEQPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGSQPWTLNQPLGISVLPLKSRL YQKMLTGKGLDGLHVERLPIMDTSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTIQESWSK DTVSSTMDLSTSTPREAEEEPLVPEMSHDTEMNNYRRAMQKMAEDILSLRRQASILEGENRILRSRLAQQEEEEGQGKAS EAQNTVSMKQKLLLSELDMKKLRDRVQHLQNELIRKNDREKELLLLYQAQQPQAALLKQYQGKLQKMKALEETVRHQEKV IEKMERVLEDRLQDRSKPPPLNRQQGKPYTGFPMLSASGLPLGSMGENLPVELYSVLLAENAKLRTELDKNRHQQAPIIL QQQALPVDPGELGAGGDLTERLQETHGPGHSECTETLPAQDLLSGTSDKFNLLAKLEHAQSRILSLESQLEDSARRWGRE KQDLATRLQEQEKGFRHPSNSIIIEQPPYSLPPAPGASIFGKPRATVDPGGWREEAFQSRGQGDGPLPDPEKKQGHQRPA LLGNTREACPFHLPQNIYHV*

Gene Symbol:	CCDC33
Accession:	NM_025055
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	237

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLKNKKNTEDPEEPLIASQSTEPEIGHLSPSKKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSSKAVTSV TSEPTRAPIWGDTVNVEIQAEDAGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEATAKTQLY ATVVRKSSFIPRYIGCNHMALEIFLRGVNEPLANNPNPIVVIARVVPNYKEFKVSQANRDLASVGLPITPLSFPIPFMMN FDVPRVSQNGCPQLSKPGGPPEQPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGSQPWTLNQPLGISVLPLKSRL YQKMLTGKGLDGLHVERLPIMDTSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTIQESWSK DTVSSTMDLSTSTPREAEEEPLVPEMSHDTEMNNYRRAMQKMAEDILSLRRQASILEGENRILRSRLAQQEEEEGQGKAS EAQNTVSMKQKLLLSELDMKKLRDRVQHLQNELIRKNDREKELLLLYQAQQPQAALLKQYQGKLQKMKALEETVRHQEKV IEKMERVLEDRLQDRSKPPPLNRQQGKPYTGFPMLSASGLPLGSMGENLPVELYSVLLAENAKLRTELDKNRHQQAPIIL QQQALPDLLSGTSDKFNLLAKLEHAQSRILSLESQLEDSARRWGREKQDLATRLQEQEKGFRHPSNSIIIEQPSALTHSM DLKQPSELEPLLPSSDSKLNKPLSPQKETANSQQT*

Gene Symbol:	CCDC33
Accession:	XM_017022624
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	455

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAFRGPEPWVSASLLRQRLKAEEKTLDLEFEVLSVGFNEAGRYALRLSAENPLQVGSGAGVQLQVNDGDPFPACSAITDV IEQQEPGQSLTLTRSKFIFTLPKGFCKNDGQHDAQLHVEALRLDEPLGRAAQRVGEAIFPIYPRPDQPRMNPKAQDHEDL YRYCGNLALLRASTDPTARHCGSLAYSVAFHVHRGPQPPVSDSPPRAGQPELMSPCPEPQLPILQNTEDPEEPLIASQST EPEIGHLSPSKKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSSKAVTSVTSEPTRAPIWGDTVNVEIQAED AGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEATAKTQLYATVVRKSSFIPRYIGCNHMALE IFLRGVNEPLANNPNPIVVIARVVPNYKEFKVSQANRDLASVGLPITPLSFPIPFMMNFDVPRVSQNGCPQLSKPGGPPE QPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGSQPWTLNQPLGISVLPLKSRLYQKMLTGKGLDGLHVERLPIMD TSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTIQESWSKDTVSSTMDLSTSTPREAEEEPL VPEMSHDTEMNNYRRAMQKMAEDILSLRRQASILEGENRILRSRLAQQEEEEGQGKASEAQNTVSMKQKLLLSELDMKKL RDRVQHLQNELIRKNDREKELLLLYQAQQPQAALLKQYQGKLQKMKALEETVRHQEKVIEKMERVLEDRLQDRSKPPPLN RQQGKPYTGFPMLSASGLPLGSMGENLPVELYSVLLAENAKLRTELDKNRHQQAPIILQQQALPDLLSGTSDKFNLLAKL EHAQSRILSLESQLEDSARRWGREKQDLATRLQEQEKGFRHPSNSIIIEQPPYSLPPAPGASIFGKPRATVDPGGWREEA FQSRGQGDGPLPDPEKKQGHQRPALLGNTREACPFHLPQNIYHV*

Gene Symbol:	CCDC33
Accession:	XM_047433142
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	455

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAFRGPEPWVSASLLRQRLKAEEKTLDLEFEVLSVGFNEAGRYALRLSAENPLQVGSGAGVQLQVNDGDPFPACSAITDV IEQQEPGQSLTLTRSKFIFTLPKGFCKNDGQHDAQLHVEALRLDEPLGRAAQRVGEAIFPIYPRPDQPRMNPKAQDHEDL YRYCGNLALLRASTDPTARHCGSLAYSVAFHVHRGPQPPVSDSPPRAGQPELMSPCPEPQLPILQNTEDPEEPLIASQST EPEIGHLSPSKKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSSKAVTSVTSEPTRAPIWGDTVNVEIQAED AGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEATAKTQLYATVVRKSSFIPRYIGCNHMALE IFLRGVNEPLANNPNPIVVIARVVPNYKEFKVSQANRDLASVGLPITPLSFPIPFMMNFDVPRVSQNGCPQLSKPGGPPE QPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGSQPWTLNQPLGISVLPLKSRLYQKMLTGKGLDGLHVERLPIMD TSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTIQESWSKDTVSSTMDLSTSTPREAEEEPL VPEMSHDTEMNNYRRAMQKMAEDILSLRRQASILEGENRILRSRLAQQEEEEGQGKASEAQNTVSMKQKLLLSELDMKKL RDRVQHLQNELIRKNDREKELLLLYQAQQPQAALLKQYQGKLQKMKALEETVRHQEKASLCSQPLAFPWVLWERTCRLNF TRCCWQKTRSCGRSWIRTATSRPPSFCSNRPCRISSLVLQTSSTSWPSWNTLRAGSCPWKAS*

Gene Symbol:	CCDC33
Accession:	XM_011522086
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	243

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQVNSWHETWHTNTEDPEEPLIASQSTEPEIGHLSPSKKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSS KAVTSVTSEPTRAPIWGDTVNVEIQAEDAGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEAT AKTQLYATVVRKSSFIPRYIGCNHMALEIFLRGVNEPLANNPNPIVVIARVVPNYKEFKVSQANRDLASVGLPITPLSFP IPFMMNFDVPRVSQNGCPQLSKPGGPPEQPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGSQPWTLNQPLGISVL PLKSRLYQKMLTGKGLDGLHVERLPIMDTSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTI QESWSKDTVSSTMDLSTSTPREAEEEPLVPEMSHDTEMNNYRRAMQKMAEDILSLRRQASILEGENRILRSRLAQQEEEE GQGKASEAQNTVSMKQKLLLSELDMKKLRDRVQHLQNELIRKNDREKELLLLYQAQQPQAALLKQYQGKLQKMKALEETV RHQEKVIEKMERVLEDRLQDRSKPPPLNRQQGKPYTGFPMLSASGLPLGSMGENLPVELYSVLLAENAKLRTELDKNRHQ QAPIILQQQALPVDPGELGAGGDLTERLQETHGPGHSECTETLPAQDLLSGTSDKFNLLAKLEHAQSRILSLESQLEDSA RRWGREKQDLATRLQEQEKGFRHPSNSIIIEQPPYSLPPAPGASIFGKPRATVDPGGWREEAFQSRGQGDGPLPDPEKKQ GHQRPALLGNTREACPFHLPQNIYHV*

Gene Symbol:	CCDC33
Accession:	XM_017022625
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	455

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAFRGPEPWVSASLLRQRLKAEEKTLDLEFEVLSVGFNEAGRYALRLSAENPLQVGSGAGVQLQVNDGDPFPACSAITDV IEQQEPGQSLTLTRSKFIFTLPKGFCKNDGQHDAQLHVEALRLDEPLGRAAQRVGEAIFPIYPRPDQPRMNPKAQDHEDL YRYCGNLALLRASTDPTARHCGSLAYSVAFHVHRGPQPPVSDSPPRAGQPELMSPCPEPQLPILQNTEDPEEPLIASQST EPEIGHLSPSKKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSSKAVTSVTSEPTRAPIWGDTVNVEIQAED AGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEATAKTQLYATVVRKSSFIPRYIGCNHMALE IFLRGVNEPLANNPNPIVVIARVVPNYKEFKVSQANRDLASVGLPITPLSFPIPFMMNFDVPRVSQNGCPQLSKPGGPPE QPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGSQPWTLNQPLGISVLPLKSRLYQKMLTGKGLDGLHVERLPIMD TSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTIQESWSKDTVSSTMDLSTSTPREAEEEPL VPEMSHDTEMNNYRRAMQKMAEDILSLRRQASILEGENRILRSRLAQQEEEEGQGKASEAQNTVSMKQKLLLSELDMKKL RDRVQHLQNELIRKNDREKELLLLYQAQQPQAALLKQYQGKLQKMKALEETVRHQEKVIEKMERVLEDRLQDRSKPPPLN RQQGKPYTGFPMLSASGLPLGSMGENLPVELYSVLLAENAKLRTELDKNRHQQAPIILQQQALPVDPGELGAGGDLTERL QETHGPGHSECTETLPAQDLLSGTSDKFNLLAKLEHAQSRILSLESQLEDSARRWGREKQDLATRLQEQEKGFRHPSNSI IIEQPVSDPPGVAPRGSGGGAGSHRTPKVTGP*

Gene Symbol:	CCDC33
Accession:	XM_017022628
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	455

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAFRGPEPWVSASLLRQRLKAEEKTLDLEFEVLSVGFNEAGRYALRLSAENPLQVGSGAGVQLQVNDGDPFPACSAITDV IEQQEPGQSLTLTRSKFIFTLPKGFCKNDGQHDAQLHVEALRLDEPLGRAAQRVGEAIFPIYPRPDQPRMNPKAQDHEDL YRYCGNLALLRASTDPTARHCGSLAYSVAFHVHRGPQPPVSDSPPRAGQPELMSPCPEPQLPILQNTEDPEEPLIASQST EPEIGHLSPSKKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSSKAVTSVTSEPTRAPIWGDTVNVEIQAED AGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEATAKTQLYATVVRKSSFIPRYIGCNHMALE IFLRGVNEPLANNPNPIVVIARVVPNYKEFKVSQANRDLASVGLPITPLSFPIPFMMNFDVPRVSQNGCPQLSKPGGPPE QPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGSQPWTLNQPLGISVLPLKSRLYQKMLTGKGLDGLHVERLPIMD TSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTIQESWSKDTVSSTMDLSTSTPREAEEEPL VPEMSHDTEMNNYRRAMQKMAEDILSLRRQASILEGENRILRSRLAQQEEEEGQGKASEAQNTVSMKQKLLLSELDMKKL RDRVQHLQNELIRKNDREKELLLLYQAQQPQAALLKQYQGKLQKMKALEETVRHQEKVIEKMERVLEDRLQDRSKPPPLN RQQGKPYTGFPMLSASGLPLGSMGENLPVELYSVLLAENAKLRTELDKNRHQQAPIILQQQALPDLLSGTSDKFNLLAKL EHAQSRILSLESQLEDSARRWGREKQDLATRLQEQEKGFRHPSNSIIIEQPVSDPPGVAPRGSGGGAGSHRTPKVTGP*

Gene Symbol:	CCDC33
Accession:	XM_017022623
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	455

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAFRGPEPWVSASLLRQRLKAEEKTLDLEFEVLSVGFNEAGRYALRLSAENPLQVGSGAGVQLQVNDGDPFPACSAITDV IEQQEPGQSLTLTRSKFIFTLPKGFCKNDGQHDAQLHVEALRLDEPLGRAAQRVGEAIFPIYPRPDQPRMNPKAQDHEDL YRYCGNLALLRASTDPTARHCGSLAYSVAFHVHRGPQPPVSDSPPRAGQPELMSPCPEPQLPILQNTEDPEEPLIASQST EPEIGHLSPSKKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSSKAVTSVTSEPTRAPIWGDTVNVEIQAED AGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEATAKTQLYATVVRKSSFIPRYIGCNHMALE IFLRGVNEPLANNPNPIVVIARVVPNYKEFKVSQANRDLASVGLPITPLSFPIPFMMNFDVPRVSQNGCPQLSKPGGPPE QPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGSQPWTLNQPLGISVLPLKSRLYQKMLTGKGLDGLHVERLPIMD TSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTIQESWSKDTVSSTMDLSTSTPREAEEEPL VPEMSHDTEMNNYRRAMQKMAEDILSLRRQASILEGENRILRSRLAQQEEEEGQGKASEAQNTVSMKQKLLLSELDMKKL RDRVQHLQNELIRKNDREKELLLLYQAQQPQAALLKQYQGKLQKMKALEETVRHQEKVIEKMERVLEDRLQDRSKPPPLN RQQGKPYTGFPMLSASGLPLGSMGENLPVELYSVLLAENAKLRTELDKNRHQQAPIILQQQALPVDPGELGAGGDLTERL QETHGPGHSECTETLPAQDLLSGTSDKFNLLAKLEHAQSRILSLESQLEDSARRWGREKQDLATRLQEQEKGFRHPSNSI IIEQPSALTHSMDLKQPSELEPLLPSSDSKLNKPLSPQKETANSQQT*

Gene Symbol:	CCDC33
Accession:	XM_017022631
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	455

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAFRGPEPWVSASLLRQRLKAEEKTLDLEFEVLSVGFNEAGRYALRLSAENPLQVGSGAGVQLQVNDGDPFPACSAITDV IEQQEPGQSLTLTRSKFIFTLPKGFCKNDGQHDAQLHVEALRLDEPLGRAAQRVGEAIFPIYPRPDQPRMNPKAQDHEDL YRYCGNLALLRASTDPTARHCGSLAYSVAFHVHRGPQPPVSDSPPRAGQPELMSPCPEPQLPILQNTEDPEEPLIASQST EPEIGHLSPSKKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSSKAVTSVTSEPTRAPIWGDTVNVEIQAED AGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEATAKTQLYATVVRKSSFIPRYIGCNHMALE IFLRGVNEPLANNPNPIVVIARVVPNYKEFKVSQANRDLASVGLPITPLSFPIPFMMNFDVPRVSQNGCPQLSKPGGPPE QPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGSQPWTLNQPLGISVLPLKSRLYQKMLTGKGLDGLHVERLPIMD TSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTIQESWSKDTVSSTMDLSTSTPREAEEEPL VPEMSHDTIRLQLNRKLNIFWREKRSGNR*

Gene Symbol:	CCDC33
Accession:	XM_017022627
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	455

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAFRGPEPWVSASLLRQRLKAEEKTLDLEFEVLSVGFNEAGRYALRLSAENPLQVGSGAGVQLQVNDGDPFPACSAITDV IEQQEPGQSLTLTRSKFIFTLPKGFCKNDGQHDAQLHVEALRLDEPLGRAAQRVGEAIFPIYPRPDQPRMNPKAQDHEDL YRYCGNLALLRASTDPTARHCGSLAYSVAFHVHRGPQPPVSDSPPRAGQPELMSPCPEPQLPILQNTEDPEEPLIASQST EPEIGHLSPSKKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSSKAVTSVTSEPTRAPIWGDTVNVEIQAED AGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEATAKTQLYATVVRKSSFIPRYIGCNHMALE IFLRGVNEPLANNPNPIVVIARVVPNYKEFKVSQANRDLASVGLPITPLSFPIPFMMNFDVPRVSQNGCPQLSKPGGPPE QPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGSQPWTLNQPLGISVLPLKSRLYQKMLTGKGLDGLHVERLPIMD TSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTIQESWSKDTVSSTMDLSTSTPREAEEEPL VPEMSHDTEMNNYRRAMQKMAEDILSLRRQASILEGENRILRSRLAQQEEEEGQGKASEAQNTVSMKQKLLLSELDMKKL RDRVQHLQNELIRKNDREKELLLLYQAQQPQAALLKQYQGKLQKMKALEETVRHQEKVIEKMERVLEDRLQDRSKPPPLN RQQGKPYTGFPMLSASGLPLGSMGENLPVELYSVLLAENAKLRTELDKNRHQQAPIILQQQALPVDPGELGAGGDLTERL QETHGPGHSECTETLPAQDLLSGTSDKFNLLAKLEHAQSRILSLESQLEDSARRWGREKQDLATRLQEQEKGFRHPSNSI IIEQPMATM*

Gene Symbol:	CCDC33
Accession:	XM_047433141
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	306

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNPKAQDHEDLYRYCGNLALLRASTDPTARHCGSLAYSVAFHVHRGPQPPVSDSPPRAGQPELMSPCPEPQLPILQNTED PEEPLIASQSTEPEIGHLSPSKKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSSKAVTSVTSEPTRAPIWG DTVNVEIQAEDAGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEATAKTQLYATVVRKSSFIP RYIGCNHMALEIFLRGVNEPLANNPNPIVVIARVVPNYKEFKVSQANRDLASVGLPITPLSFPIPFMMNFDVPRVSQNGC PQLSKPGGPPEQPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGSQPWTLNQPLGISVLPLKSRLYQKMLTGKGLD GLHVERLPIMDTSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTIQESWSKDTVSSTMDLST STPREAEEEPLVPEMSHDTEMNNYRRAMQKMAEDILSLRRQASILEGENRILRSRLAQQEEEEGQGKASEAQNTVSMKQK LLLSELDMKKLRDRVQHLQNELIRKNDREKELLLLYQAQQPQAALLKQYQGKLQKMKALEETVRHQEKVIEKMERVLEDR LQDRSKPPPLNRQQGKPYTGFPMLSASGLPLGSMGENLPVELYSVLLAENAKLRTELDKNRHQQAPIILQQQALPVDPGE LGAGGDLTERLQETHGPGHSECTETLPAQDLLSGTSDKFNLLAKLEHAQSRILSLESQLEDSARRWGREKQDLATRLQEQ EKGFRHPSNSIIIEQPPYSLPPAPGASIFGKPRATVDPGGWREEAFQSRGQGDGPLPDPEKKQGHQRPALLGNTREACPF HLPQNIYHV*

Gene Symbol:	CCDC33
Accession:	XM_011522085
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	455

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAFRGPEPWVSASLLRQRLKAEEKTLDLEFEVLSVGFNEAGRYALRLSAENPLQVGSGAGVQLQVNDGDPFPACSAITDV IEQQEPGQSLTLTRSKFIFTLPKGFCKNDGQHDAQLHVEALRLDEPLGRAAQRVGEAIFPIYPRPDQPRMNPKAQDHEDL YRYCGNLALLRASTDPTARHCGSLAYSVAFHVHRGPQPPVSDSPPRAGQPELMSPCPEPQLPILQNTEDPEEPLIASQST EPEIGHLSPSKKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSSKAVTSVTSEPTRAPIWGDTVNVEIQAED AGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEATAKTQLYATVVRKSSFIPRYIGCNHMALE IFLRGVNEPLANNPNPIVVIARVVPNYKEFKVSQANRDLASVGLPITPLSFPIPFMMNFDVPRVSQNGCPQLSKPGGPPE QPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGSQPWTLNQPLGISVLPLKSRLYQKMLTGKGLDGLHVERLPIMD TSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTIQESWSKDTVSSTMDLSTSTPREAEEEPL VPEMSHDTEMNNYRRAMQKMAEDILSLRRQASILEGENRILRSRLAQQEEEEGQGKASEAQNTVSMKQKLLLSELDMKKL RDRVQHLQNELIRKNDREKELLLLYQAQQPQAALLKQYQGKLQKMKALEETVRHQEKVIEKMERVLEDRLQDRSKPPPLN RQQGKPYTGFPMLSASGLPLGSMGENLPVELYSVLLAENAKLRTELDKNRHQQAPIILQQQALPVDPGELGAGGDLTERL QETHGPGHSECTETLPAQDLLSGTSDKFNLLAKLEHAQSRILSLESQLEDSARRWGREKQDLATRLQEQEKGFRHPSNSI IIEQPPYSLPPAPGASIFGKPRATVDPGGWREEAFQSRGQGDGPLPDPEKKQGHQRPALLGNTREACPFHLPQNIYHV*

Gene Symbol:	CCDC33
Accession:	XM_011522087
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	237

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLKNKKNTEDPEEPLIASQSTEPEIGHLSPSKKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSSKAVTSV TSEPTRAPIWGDTVNVEIQAEDAGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEATAKTQLY ATVVRKSSFIPRYIGCNHMALEIFLRGVNEPLANNPNPIVVIARVVPNYKEFKVSQANRDLASVGLPITPLSFPIPFMMN FDVPRVSQNGCPQLSKPGGPPEQPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGSQPWTLNQPLGISVLPLKSRL YQKMLTGKGLDGLHVERLPIMDTSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTIQESWSK DTVSSTMDLSTSTPREAEEEPLVPEMSHDTEMNNYRRAMQKMAEDILSLRRQASILEGENRILRSRLAQQEEEEGQGKAS EAQNTVSMKQKLLLSELDMKKLRDRVQHLQNELIRKNDREKELLLLYQAQQPQAALLKQYQGKLQKMKALEETVRHQEKV IEKMERVLEDRLQDRSKPPPLNRQQGKPYTGFPMLSASGLPLGSMGENLPVELYSVLLAENAKLRTELDKNRHQQAPIIL QQQALPVDPGELGAGGDLTERLQETHGPGHSECTETLPAQDLLSGTSDKFNLLAKLEHAQSRILSLESQLEDSARRWGRE KQDLATRLQEQEKGFRHPSNSIIIEQPPYSLPPAPGASIFGKPRATVDPGGWREEAFQSRGQGDGPLPDPEKKQGHQRPA LLGNTREACPFHLPQNIYHV*

Gene Symbol:	CCDC33
Accession:	XM_017022626
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	455

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAFRGPEPWVSASLLRQRLKAEEKTLDLEFEVLSVGFNEAGRYALRLSAENPLQVGSGAGVQLQVNDGDPFPACSAITDV IEQQEPGQSLTLTRSKFIFTLPKGFCKNDGQHDAQLHVEALRLDEPLGRAAQRVGEAIFPIYPRPDQPRMNPKAQDHEDL YRYCGNLALLRASTDPTARHCGSLAYSVAFHVHRGPQPPVSDSPPRAGQPELMSPCPEPQLPILQNTEDPEEPLIASQST EPEIGHLSPSKKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSSKAVTSVTSEPTRAPIWGDTVNVEIQAED AGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEATAKTQLYATVVRKSSFIPRYIGCNHMALE IFLRGVNEPLANNPNPIVVIARVVPNYKEFKVSQANRDLASVGLPITPLSFPIPFMMNFDVPRVSQNGCPQLSKPGGPPE QPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGSQPWTLNQPLGISVLPLKSRLYQKMLTGKGLDGLHVERLPIMD TSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTIQESWSKDTVSSTMDLSTSTPREAEEEPL VPEMSHDTEMNNYRRAMQKMAEDILSLRRQASILEGENRILRSRLAQQEEEEGQGKASEAQNTVSMKQKLLLSELDMKKL RDRVQHLQNELIRKNDREKELLLLYQAQQPQAALLKQYQGKLQKMKALEETVRHQEKVIEKMERVLEDRLQDRSKPPPLN RQQGKPYTGFPMLSASGLPLGSMGENLPVELYSVLLAENAKLRTELDKNRHQQAPIILQQQALPDLLSGTSDKFNLLAKL EHAQSRILSLESQLEDSARRWGREKQDLATRLQEQEKGFRHPSNSIIIEQPSALTHSMDLKQPSELEPLLPSSDSKLNKP LSPQKETANSQQT*

Gene Symbol:	CCDC33
Accession:	XR_001751401
Location:	EXON;NON-CODING

Gene Symbol:	CCDC33
Accession:	XM_011522089
Location:	INTRON

Gene Symbol:	CCDC33
Accession:	NM_182791
Location:	INTRON

Gene Symbol:	CCDC33
Accession:	NM_001287181
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004132026	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	CCDC33	CLINVAR
OMIM	618525	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:156075114 - Homo sapiens