RGD:401878428 Rat Genome Database

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Variant: RGD:401878428 -  Homo sapiens

RGD ID: 401878428
ClinVar ID: CV2774321
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZMYND15  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 4,647,112
GRCh38 17 4,743,817
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001136046.3:c.1348G>A
NM_001267822.1:c.1348G>A
NM_032265.2:c.1348G>A
NG_034160.1:g.8803G>A
More... 		07/12/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZMYND15
Accession:NM_001267822
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 450
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFVSGYRDEFLDFTALLFGWFRKFVAERGAVGTSLEGRCRQLEAQIRRLPQDPALWVLHVLPNHSVGISLGQGAEPGPG
PGLGTAWLLGDNPPLHLRDLSPYISFVSLEDGEEGEEEEEEDEEEEKREDGGAGSTEKVEPEEDRELAPTSRESPQETNP
PGESEEAAREAGGGKDGCREDRVENETRPQKRKGQRSEAAPLHVSCLLLVTDEHGTILGIDLLVDGAQGTASWGSGTKDL
APWAYALLCHSMACPMGSGDPRKPRQLTVGDARLHRELESLVPRLGVKLAKTPMRTWGPRPGFTFASLRARTCHVCHRHS
FEAKLTPCPQCSAVLYCGEACLRADWQRCPDDVSHRFWCPRLAAFMERAGELATLPFTYTAEVTSETFNKEAFLASRGLT
RGYWTQLSMLIPGPGFSRHPRGNTPSLSLLRGGDPYQLLQGDGTALMPPMPPHPPRGVFGSWQDYYTWRGLSLDSPIAVL
LTYPLTVYYVITHLVPQSFPELNIQNKQSLKIHVVEAGKEFDLVMVFWELLVLLPHVALELQFVGDGLPPESDEQHFTLQ
RDSLEVSVRPGSGISARPSSGTKEKGGRRDLQIKVSARPYHLFQGPKPDLVIASPSSLSAGFNSGFALKDTWLRSLPRLQ
SLRVPAFFTESSEYSCVMDGQTMAVATGGGTSPPQPNPFRSPFRLRAADNCMSWYCNAFIFHLVYKPAQGSGARPAPGPP
PPSPTPSAPPAPTRRRRGEKKPGRGARRRK*

Gene Symbol:ZMYND15
Accession:NM_001136046
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 450
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFVSGYRDEFLDFTALLFGWFRKFVAERGAVGTSLEGRCRQLEAQIRRLPQDPALWVLHVLPNHSVGISLGQGAEPGPG
PGLGTAWLLGDNPPLHLRDLSPYISFVSLEDGEEGEEEEEEDEEEEKREDGGAGSTEKVEPEEDRELAPTSRESPQETNP
PGESEEAAREAGGGKDGCREDRVENETRPQKRKGQRSEAAPLHVSCLLLVTDEHGTILGIDLLVDGAQGTASWGSGTKDL
APWAYALLCHSMACPMGSGDPRKPRQLTVGDARLHRELESLVPRLGVKLAKTPMRTWGPRPGFTFASLRARTCHVCHRHS
FEAKLTPCPQCSAVLYCGEACLRADWQRCPDDVSHRFWCPRLAAFMERAGELATLPFTYTAEVTSETFNKEAFLASRGLT
RGYWTQLSMLIPGPGFSRHPRGNTPSLSLLRGGDPYQLLQGDGTALMPPMPPHPPRGVFGSWQDYYTWRGLSLDSPIAVL
LTYPLTVYYVITHLVPQSFPELNIQNKQSLKIHVVEAGKEFDLVMVFWELLVLLPHVALELQFVGDGLPPESDEQHFTLQ
RDSLEVSVRPGSGISARPSSGTKEKGGRRDLQIKVSARPYHLFQGPKPDLVIGFNSGFALKDTWLRSLPRLQSLRVPAFF
TESSEYSCVMDGQTMAVATGGGTSPPQPNPFRSPFRLRAADNCMSWYCNAFIFHLVYKPAQGSGARPAPGPPPPSPTPSA
PPAPTRRRRGEKKPGRGARRRK*

Gene Symbol:ZMYND15
Accession:XM_017025218
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 345
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLPGGPVERVAASPGRAHLRGSHPRTHRARGAWPPAEPARARAALTSQPHPRTLHREVFTFEKWWRLQSGPGPCAAEDM
EFVSGYRDEFLDFTALLFGWFRKFVAERGAVGTSLEGRCRQLEAQIRRLPQDPALWVLHVLPNHSVGISLGQGAEPGPGP
GLGTAWLLGDNPPLHLRDLSPYISFVSLEDGEEGEEEEEEDEEEEKREDGGAGSTEKVEPEEDRELAPTSRESPQETNPP
GESEEAAREAGGGKDGCREDRVENETRPQKRKGQRSEVTSETFNKEAFLASRGLTRGYWTQLSMLIPGPGFSRHPRGNTP
SLSLLRGGDPYQLLQGDGTALMPPMPPHPPRGVFGSWQDYYTWRGLSLDSPIAVLLTYPLTVYYVITHLVPQSFPELNIQ
NKQSLKIHVVEAGKEFDLVMVFWELLVLLPHVALELQFVGDGLPPESDEQHFTLQRDSLEVSVRPGSGISARPSSGTKEK
GGRRDLQIKVSARPYHLFQGPKPDLVIGFNSGFALKDTWLRSLPRLQSLRVPAFFTESSEYSCVMDGQTMAVATGGGTSP
PQPNPFRSPFRLRAADNCMSWYCNAFIFHLVYKPAQGSGARPAPGPPPPSPTPSAPPAPTRRRRGEKKPGRGARRRK*

Gene Symbol:ZMYND15
Accession:XM_047436923
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 518
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLPGGPVERVAASPGRAHLRGSHPRTHRARGAWPPAEPARARAALTSQPHPRTLHRESGPGPCAAEDMEFVSGYRDEFL
DFTALLFGWFRKFVAERGAVGTSLEGRCRQLEAQIRRLPQDPALWVLHVLPNHSVGISLGQGAEPGPGPGLGTAWLLGDN
PPLHLRDLSPYISFVSLEDGEEGEEEEEEDEEEEKREDGGAGSTEKVEPEEDRELAPTSRESPQETNPPGESEEAAREAG
GGKDGCREDRVENETRPQKRKGQRSEAAPLHVSCLLLVTDEHGTILGIDLLVDGAQGTASWGSGTKDLAPWAYALLCHSM
ACPMGSGDPRKPRQLTVGDARLHRELESLVPRLGVKLAKTPMRTWGPRPGFTFASLRARTCHVCHRHSFEAKLTPCPQCS
AVLYCGEACLRADWQRCPDDVSHRFWCPRLAAFMERAGELATLPFTYTAEVTSETFNKEAFLASRGLTRGYWTQLSMLIP
GPGFSRHPRGNTPSLSLLRGGDPYQLLQGDGTALMPPMPPHPPRGVFGSWQDYYTWRGLSLDSPIAVLLTYPLTVYYVIT
HLVPQSFPELNIQNKQSLKIHVVEAGKEFDLVMVFWELLVLLPHVALELQFVGDGLPPESDEQHFTLQRDSLEVSVRPGS
GISARPSSGTKEKGGRRDLQIKVSARPYHLFQGPKPDLVIGFNSGFALKDTWLRSLPRLQSLRVPAFFTESSEYSCVMDG
QTMAVATGGGTSPPQPNPFRSPFRLRAADNCMSWYCNAFIFHLVYKPAQGSGARPAPGPPPPSPTPSAPPAPTRRRRGEK
KPGRGARRRK*

Gene Symbol:ZMYND15
Accession:NM_032265
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 450
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFVSGYRDEFLDFTALLFGWFRKFVAERGAVGTSLEGRCRQLEAQIRRLPQDPALWVLHVLPNHSVGISLGQGAEPGPG
PGLGTAWLLGDNPPLHLRDLSPYISFVSLEDGEEGEEEEEEDEEEEKREDGGAGSTEKVEPEEDRELAPTSRESPQETNP
PGESEEAAREAGGGKDGCREDRVENETRPQKRKGQRSEAAPLHVSCLLLVTDEHGTILGIDLLVDGAQGTASWGSGTKDL
APWAYALLCHSMACPMGSGDPRKPRQLTVGDARLHRELESLVPRLGVKLAKTPMRTWGPRPGFTFASLRARTCHVCHRHS
FEAKLTPCPQCSAVLYCGEACLRADWQRCPDDVSHRFWCPRLAAFMERAGELATLPFTYTAEVTSETFNKEAFLASRGLT
RGYWTQLSMLIPGPGFSRHPRGNTPSLSLLRGGDPYQLLQGDGTALMPPMPPHPPRGVFVPELNIQNKQSLKIHVVEAGK
EFDLVMVFWELLVLLPHVALELQFVGDGLPPESDEQHFTLQRDSLEVSVRPGSGISARPSSGTKEKGGRRDLQIKVSARP
YHLFQGPKPDLVIGFNSGFALKDTWLRSLPRLQSLRVPAFFTESSEYSCVMDGQTMAVATGGGTSPPQPNPFRSPFRLRA
ADNCMSWYCNAFIFHLVYKPAQGSGARPAPGPPPPSPTPSAPPAPTRRRRGEKKPGRGARRRK*

Gene Symbol:ZMYND15
Accession:XM_047436924
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 518
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLPGGPVERVAASPGRAHLRGSHPRTHRARGAWPPAEPARARAALTSQPHPRTLHRESGPGPCAAEDMEFVSGYRDEFL
DFTALLFGWFRKFVAERGAVGTSLEGRCRQLEAQIRRLPQDPALWVLHVLPNHSVGISLGQGAEPGPGPGLGTAWLLGDN
PPLHLRDLSPYISFVSLEDGEEGEEEEEEDEEEEKREDGGAGSTEKVEPEEDRELAPTSRESPQETNPPGESEEAAREAG
GGKDGCREDRVENETRPQKRKGQRSEAAPLHVSCLLLVTDEHGTILGIDLLVDGAQGTASWGSGTKDLAPWAYALLCHSM
ACPMGSGDPRKPRQLTVGDARLHRELESLVPRLGVKLAKTPMRTWGPRPGFTFASLRARTCHVCHRHSFEAKLTPCPQCS
AVLYCGEACLRADWQRCPDDVSHRFWCPRLAAFMERAGELATLPFTYTAEVTSETFNKEAFLASRGLTRGYWTQLSMLIP
GPGFSRHPRGNTPSLSLLRGGDPYQLLQGDGTALMPPMPPHPPRGVFVPELNIQNKQSLKIHVVEAGKEFDLVMVFWELL
VLLPHVALELQFVGDGLPPESDEQHFTLQRDSLEVSVRPGSGISARPSSGTKEKGGRRDLQIKVSARPYHLFQGPKPDLV
IGFNSGFALKDTWLRSLPRLQSLRVPAFFTESSEYSCVMDGQTMAVATGGGTSPPQPNPFRSPFRLRAADNCMSWYCNAF
IFHLVYKPAQGSGARPAPGPPPPSPTPSAPPAPTRRRRGEKKPGRGARRRK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004347676 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZMYND15 CLINVAR
OMIM 614312 CLINVAR