RGD:14696188 Rat Genome Database

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Variant: RGD:14696188 -  Homo sapiens

RGD ID: 14696188
RS ID: rs777560888
ClinVar ID: CV612391
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AEBP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 44,146,483
GRCh38 7 44,106,884
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001129.5:c.592G>A
NC_000007.13:g.44146483G>A
NM_001129.4:c.592G>A
NP_001120.3:p.Gly198Arg
More... 		12/17/2018 missense variant uncertain significance Severe Myopia
Disease Annotations     Click to see Annotation Detail View
High Myopia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
High myopia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:AEBP1
Accession:NM_001129
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVRGAPLLSCLLALLALCPGGRPQTVLTDDEIEEFLEGFLSELEPEPREDDVEAPPPPEPTPRVRKAQAGGKPGKRPG
TAAEVPPEKTKDKGKKGKKDKGPKVPKESLEGSPRPPKKGKEKPPKATKKPKEKPPKATKKPKEKPPKATKKPKEKPPKA
TKKPPSGKRPPILAPSETLEWPLPPPPSPGPEELPQERGAPLSNNWQNPGEETHVEAREHQPEPEEETEQPTLDYNDQIE
REDYEDFEYIRRQKQPRPPPSRRRRPERVWPEPPEEKAPAPAPEERIEPPVKPLLPPLPPDYGDGYVIPNYDDMDYYFGP
PPPQKPDAERQTDEEKEELKKPKKEDSSPKEETDKWAVEKGKDHKEPRKGEELEEEWTPTEKVKCPPIGMESHRIEDNQI
RASSMLRHGLGAQRGRLNMQTGATEDDYYDGAWCAEDDARTQWIEVDTRRTTRFTGVITQGRDSSIHDDFVTTFFVGFSN
DSQTWVMYTNGYEEMTFHGNVDKDTPVLSELPEPVVARFIRIYPLTWNGSLCMRLEVLGCSVAPVYSYYAQNEVVATDDL
DFRHHSYKDMRQLMKVVNEECPTITRTYSLGKSSRGLKIYAMEISDNPGEHELGEPEFRYTAGIHGNEVLGRELLLLLMQ
YLCREYRDGNPRVRSLVQDTRIHLVPSLNPDGYEVAAQMGSEFGNWALGLWTEEGFDIFEDFPDLNSVLWGAEERKWVPY
RVPNNNLPIPERYLSPDATVSTEVRAIIAWMEKNPFVLGANLNGGERLVSYPYDMARTPTQEQLLAAAMAAARGEDEDEV
SEAQETPDHAIFRWLAISFASAHLTLTEPYRGGCQAQDYTGGMGIVNGAKWNPRTGTINDFSYLHTNCLELSFYLGCDKF
PHESELPREWENNKEALLTFMEQVHRGIKGVVTDEQGIPIANATISVSGINHGVKTASGGDYWRILNPGEYRVTAHAEGY
TPSAKTCNVDYDIGATQCNFILARSNWKRIREIMAMNGNRPIPHIDPSRPMTPQQRRLQQRRLQHRLRLRAQMRLRRLNA
TTTLGPHTVPPTLPPAPATTLSTTIEPWGLIPPTTAGWEESETETYTEVVTEFGTEVEPEFGTKVEPEFETQLEPEFETQ
LEPEFEEEEEEEKEEEIATGQAFPFTTVETYTVNFGDF*

Gene Symbol:AEBP1
Accession:XM_011515162
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVRGAPLLSCLLALLALCPGGRPQTVLTDDEIEEFLEGFLSELEPEPREDDVEAPPPPEPTPRVRKAQAGGKPGKRPG
TAAEVPPEKTKDKGKKGKKDKGPKVPKESLEGSPRPPKKGKEKPPKATKKPKEKPPKATKKPKEKPPKATKKPKEKPPKA
TKKPPSGKRPPILAPSETLEWPLPPPPSPGPEELPQERGAPLSNNWQNPGEETHVEAREHQPEPEEETEQPTLDYNDQIE
REDYEDFEYIRRQKQPRPPPSRRRRPERVWPEPPEEKAPAPAPEERIEPPVKPLLPPLPPDYGDGYVIPNYDDKKPKKED
SSPKEETDKWAVEKGKDHKEPRKGEELEEEWTPTEKVKCPPIGMESHRIEDNQIRASSMLRHGLGAQRGRLNMQTGATED
DYYDGAWCAEDDARTQWIEVDTRRTTRFTGVITQGRDSSIHDDFVTTFFVGFSNDSQTWVMYTNGYEEMTFHGNVDKDTP
VLSELPEPVVARFIRIYPLTWNGSLCMRLEVLGCSVAPVYSYYAQNEVVATDDLDFRHHSYKDMRQLMKVVNEECPTITR
TYSLGKSSRGLKIYAMEISDNPGEHELGEPEFRYTAGIHGNEVLGRELLLLLMQYLCREYRDGNPRVRSLVQDTRIHLVP
SLNPDGYEVAAQMGSEFGNWALGLWTEEGFDIFEDFPDLNSVLWGAEERKWVPYRVPNNNLPIPERYLSPDATVSTEVRA
IIAWMEKNPFVLGANLNGGERLVSYPYDMARTPTQEQLLAAAMAAARGEDEDEVSEAQETPDHAIFRWLAISFASAHLTL
TEPYRGGCQAQDYTGGMGIVNGAKWNPRTGTINDFSYLHTNCLELSFYLGCDKFPHESELPREWENNKEALLTFMEQVHR
GIKGVVTDEQGIPIANATISVSGINHGVKTASGGDYWRILNPGEYRVTAHAEGYTPSAKTCNVDYDIGATQCNFILARSN
WKRIREIMAMNGNRPIPHIDPSRPMTPQQRRLQQRRLQHRLRLRAQMRLRRLNATTTLGPHTVPPTLPPAPATTLSTTIE
PWGLIPPTTAGWEESETETYTEVVTEFGTEVEPEFGTKVEPEFETQLEPEFETQLEPEFEEEEEEEKEEEIATGQAFPFT
TVETYTVNFGDF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000785736 CLINVAR
dbSNP (RS) rs777560888 CLINVAR
MedGen C0271183 CLINVAR
NCBI Gene AEBP1 CLINVAR
OMIM 602981 CLINVAR