RGD:13509278 Rat Genome Database

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Variant: RGD:13509278 -  Homo sapiens

RGD ID: 13509278
RS ID: rs1554797626
ClinVar ID: CV481871
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130003630  ZEB1  ZEB1-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 31,608,166
GRCh38 10 31,319,237
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001323650.2:c.-1030G>A
NM_001174093.2:c.3G>A
NM_001174095.2:c.3G>A
NP_001167566.1:p.Met1Ile
More... 		05/23/2023 5 prime utr variant|intron variant pathogenic|likely pathogenic Corneal dystrophy, Fuchs endothelial, 6; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZEB1
Accession:NM_001323647
Location:5UTRS;EXON

Gene Symbol:ZEB1
Accession:XM_047425684
Location:5UTRS;EXON

Gene Symbol:ZEB1
Accession:NM_001323655
Location:5UTRS;EXON

Gene Symbol:ZEB1
Accession:NM_001323649
Location:5UTRS;EXON

Gene Symbol:ZEB1
Accession:NM_001323648
Location:5UTRS;EXON

Gene Symbol:ZEB1
Accession:XM_047425694
Location:5UTRS;EXON

Gene Symbol:ZEB1
Accession:NM_001323650
Location:5UTRS;EXON

Gene Symbol:ZEB1
Accession:NM_001323651
Location:5UTRS;EXON

Gene Symbol:ZEB1
Accession:NM_001323653
Location:5UTRS;EXON

Gene Symbol:ZEB1
Accession:XM_047425688
Location:5UTRS;EXON

Gene Symbol:ZEB1
Accession:NM_001323654
Location:5UTRS;EXON

Gene Symbol:ZEB1
Accession:XM_047425689
Location:5UTRS;EXON

Gene Symbol:ZEB1
Accession:NM_001323652
Location:5UTRS;EXON

Gene Symbol:ZEB1
Accession:XM_047425685
Location:5UTRS;EXON

Gene Symbol:ZEB1
Accession:XM_047425696
Location:5UTRS;EXON

Gene Symbol:ZEB1
Accession:XM_047425687
Location:5UTRS;EXON

Gene Symbol:ZEB1
Accession:NM_001323642
Location:5UTRS;INTRON

Gene Symbol:ZEB1
Accession:NM_001323644
Location:5UTRS;INTRON

Gene Symbol:ZEB1
Accession:NM_001323645
Location:5UTRS;INTRON

Gene Symbol:ZEB1
Accession:NM_001323638
Location:5UTRS;INTRON

Gene Symbol:ZEB1
Accession:NM_001323643
Location:5UTRS;INTRON

Gene Symbol:ZEB1
Accession:NM_001323646
Location:5UTRS;INTRON

Gene Symbol:ZEB1
Accession:NM_001323641
Location:5UTRS;INTRON

Gene Symbol:ZEB1
Accession:XM_047425691
Location:5UTRS;INTRON

Gene Symbol:ZEB1
Accession:XM_047425695
Location:5UTRS;INTRON

Gene Symbol:ZEB1
Accession:NM_030751
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
IADGPRCKRRKQANPRRNNVTNYNTVVETNSDSDDEDKLHIVEEESVTDAADCEGVPEDDLPTDQTVLPGRSSEREGNAK
NCWEDDRKEGQEILGPEAQADEAGCTVKDDECESDAENEQNHDPNVEEFLQQQDTAVIFPEAPEEDQRQGTPEASGHDEN
GTPDAFSQLLTCPYCDRGYKRFTSLKEHIKYRHEKNEDNFSCSLCSYTFAYRTQLERHMTSHKSGRDQRHVTQSGCNRKF
KCTECGKAFKYKHHLKEHLRIHSGEKPYECPNCKKRFSHSGSYSSHISSKKCISLIPVNGRPRTGLKTSQCSSPSLSASP
GSPTRPQIRQKIENKPLQEQLSVNQIKTEPVDYEFKPIVVASGINCSTPLQNGVFTGGGPLQATSSPQGMVQAVVLPTVG
LVSPISINLSDIQNVLKVAVDGNVIRQVLENNQANLASKEQETINASPIQQGGHSVISAISLPLVDQDGTTKIIINYSLE
QPSQLQVVPQNLKKENPVATNSCKSEKLPEDLTVKSEKDKSFEGGVNDSTCLLCDDCPGDINALPELKHYDLKQPTQPPP
LPAAEAEKPESSVSSATGDGNLSPSQPPLKNLLSLLKAYYALNAQPSAEELSKIADSVNLPLDVVKKWFEKMQAGQISVQ
SSEPSSPEPGKVNIPAKNNDQPQSANANEPQDSTVNLQSPLKMTNSPVLPVGSTTNGSRSSTPSPSPLNLSSSRNTQGYL
YTAEGAQEEPQVEPLDLSLPKQQGELLERSTITSVYQNSVYSVQEEPLNLSCAKKEPQKDSCVTDSEPVVNVIPPSANPI
NIAIPTVTAQLPTIVAIADQNSVPCLRALAANKQTILIPQVAYTYSTTVSPAVQEPPLKVIQPNGNQDERQDTSSEGVSN
VEDQNDSDSTPPKKKMRKTENGMYACDLCDKIFQKSSSLLRHKYEHTGKRPHECGICKKAFKHKHHLIEHMRLHSGEKPY
QCDKCGKRFSHSGSYSQHMNHRYSYCKREAEERDSTEQEEAGPEILSNEHVGARASPSQGDSDERESLTREEDEDSEKEE
EEEDKEMEELQEEKECEKPQGDEEEEEEEEEVEEEEVEEAENEGEEAKTEGLMKDDRAESQASSLGQKVGESSEQVSEEK
TNEA*

Gene Symbol:ZEB1
Accession:NM_001174093
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
IADGPRCKRRKQANPRRNNVTNYNTVVETNSDSDDEDKLHIVEEESVTDAADCEGVPEDDLPTDQTVLPGRSSEREGNAK
NCWEDDIKDDECESDAENEQNHDPNVEEFLQQQDTAVIFPEAPEEDQRQGTPEASGHDENGTPDAFSQLLTCPYCDRGYK
RFTSLKEHIKYRHEKNEDNFSCSLCSYTFAYRTQLERHMTSHKSGRDQRHVTQSGCNRKFKCTECGKAFKYKHHLKEHLR
IHSGEKPYECPNCKKRFSHSGSYSSHISSKKCISLIPVNGRPRTGLKTSQCSSPSLSASPGSPTRPQIRQKIENKPLQEQ
LSVNQIKTEPVDYEFKPIVVASGINCSTPLQNGVFTGGGPLQATSSPQGMVQAVVLPTVGLVSPISINLSDIQNVLKVAV
DGNVIRQVLENNQANLASKEQETINASPIQQGGHSVISAISLPLVDQDGTTKIIINYSLEQPSQLQVVPQNLKKENPVAT
NSCKSEKLPEDLTVKSEKDKSFEGGVNDSTCLLCDDCPGDINALPELKHYDLKQPTQPPPLPAAEAEKPESSVSSATGDG
NLSPSQPPLKNLLSLLKAYYALNAQPSAEELSKIADSVNLPLDVVKKWFEKMQAGQISVQSSEPSSPEPGKVNIPAKNND
QPQSANANEPQDSTVNLQSPLKMTNSPVLPVGSTTNGSRSSTPSPSPLNLSSSRNTQGYLYTAEGAQEEPQVEPLDLSLP
KQQGELLERSTITSVYQNSVYSVQEEPLNLSCAKKEPQKDSCVTDSEPVVNVIPPSANPINIAIPTVTAQLPTIVAIADQ
NSVPCLRALAANKQTILIPQVAYTYSTTVSPAVQEPPLKVIQPNGNQDERQDTSSEGVSNVEDQNDSDSTPPKKKMRKTE
NGMYACDLCDKIFQKSSSLLRHKYEHTGKRPHECGICKKAFKHKHHLIEHMRLHSGEKPYQCDKCGKRFSHSGSYSQHMN
HRYSYCKREAEERDSTEQEEAGPEILSNEHVGARASPSQGDSDERESLTREEDEDSEKEEEEEDKEMEELQEEKECEKPQ
GDEEEEEEEEEVEEEEVEEAENEGEEAKTEGLMKDDRAESQASSLGQKVGESSEQVSEEKTNEA*

Gene Symbol:ZEB1
Accession:NM_001174095
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
IADGPRCKRRKQANPRRNNGKEGQEILGPEAQADEAGCTVKDDECESDAENEQNHDPNVEEFLQQQDTAVIFPEAPEEDQ
RQGTPEASGHDENGTPDAFSQLLTCPYCDRGYKRFTSLKEHIKYRHEKNEDNFSCSLCSYTFAYRTQLERHMTSHKSGRD
QRHVTQSGCNRKFKCTECGKAFKYKHHLKEHLRIHSGEKPYECPNCKKRFSHSGSYSSHISSKKCISLIPVNGRPRTGLK
TSQCSSPSLSASPGSPTRPQIRQKIENKPLQEQLSVNQIKTEPVDYEFKPIVVASGINCSTPLQNGVFTGGGPLQATSSP
QGMVQAVVLPTVGLVSPISINLSDIQNVLKVAVDGNVIRQVLENNQANLASKEQETINASPIQQGGHSVISAISLPLVDQ
DGTTKIIINYSLEQPSQLQVVPQNLKKENPVATNSCKSEKLPEDLTVKSEKDKSFEGGVNDSTCLLCDDCPGDINALPEL
KHYDLKQPTQPPPLPAAEAEKPESSVSSATGDGNLSPSQPPLKNLLSLLKAYYALNAQPSAEELSKIADSVNLPLDVVKK
WFEKMQAGQISVQSSEPSSPEPGKVNIPAKNNDQPQSANANEPQDSTVNLQSPLKMTNSPVLPVGSTTNGSRSSTPSPSP
LNLSSSRNTQGYLYTAEGAQEEPQVEPLDLSLPKQQGELLERSTITSVYQNSVYSVQEEPLNLSCAKKEPQKDSCVTDSE
PVVNVIPPSANPINIAIPTVTAQLPTIVAIADQNSVPCLRALAANKQTILIPQVAYTYSTTVSPAVQEPPLKVIQPNGNQ
DERQDTSSEGVSNVEDQNDSDSTPPKKKMRKTENGMYACDLCDKIFQKSSSLLRHKYEHTGKRPHECGICKKAFKHKHHL
IEHMRLHSGEKPYQCDKCGKRFSHSGSYSQHMNHRYSYCKREAEERDSTEQEEAGPEILSNEHVGARASPSQGDSDERES
LTREEDEDSEKEEEEEDKEMEELQEEKECEKPQGDEEEEEEEEEVEEEEVEEAENEGEEAKTEGLMKDDRAESQASSLGQ
KVGESSEQVSEEKTNEA*

Gene Symbol:ZEB1
Accession:NM_001174096
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
IADGPRCKRRKQANPRRNNVTNYNTVVETNSDSDDEDKLHIVEEESVTDAADCEGVPEDDLPTDQTVLPGRSSEREGNAK
NCWEDDTGKEGQEILGPEAQADEAGCTVKDDECESDAENEQNHDPNVEEFLQQQDTAVIFPEAPEEDQRQGTPEASGHDE
NGTPDAFSQLLTCPYCDRGYKRFTSLKEHIKYRHEKNEDNFSCSLCSYTFAYRTQLERHMTSHKSGRDQRHVTQSGCNRK
FKCTECGKAFKYKHHLKEHLRIHSGEKPYECPNCKKRFSHSGSYSSHISSKKCISLIPVNGRPRTGLKTSQCSSPSLSAS
PGSPTRPQIRQKIENKPLQEQLSVNQIKTEPVDYEFKPIVVASGINCSTPLQNGVFTGGGPLQATSSPQGMVQAVVLPTV
GLVSPISINLSDIQNVLKVAVDGNVIRQVLENNQANLASKEQETINASPIQQGGHSVISAISLPLVDQDGTTKIIINYSL
EQPSQLQVVPQNLKKENPVATNSCKSEKLPEDLTVKSEKDKSFEGGVNDSTCLLCDDCPGDINALPELKHYDLKQPTQPP
PLPAAEAEKPESSVSSATGDGNLSPSQPPLKNLLSLLKAYYALNAQPSAEELSKIADSVNLPLDVVKKWFEKMQAGQISV
QSSEPSSPEPGKVNIPAKNNDQPQSANANEPQDSTVNLQSPLKMTNSPVLPVGSTTNGSRSSTPSPSPLNLSSSRNTQGY
LYTAEGAQEEPQVEPLDLSLPKQQGELLERSTITSVYQNSVYSVQEEPLNLSCAKKEPQKDSCVTDSEPVVNVIPPSANP
INIAIPTVTAQLPTIVAIADQNSVPCLRALAANKQTILIPQVAYTYSTTVSPAVQEPPLKVIQPNGNQDERQDTSSEGVS
NVEDQNDSDSTPPKKKMRKTENGMYACDLCDKIFQKSSSLLRHKYEHTGKRPHECGICKKAFKHKHHLIEHMRLHSGEKP
YQCDKCGKRFSHSGSYSQHMNHRYSYCKREAEERDSTEQEEAGPEILSNEHVGARASPSQGDSDERESLTREEDEDSEKE
EEEEDKEMEELQEEKECEKPQGDEEEEEEEEEVEEEEVEEAENEGEEAKTEGLMKDDRAESQASSLGQKVGESSEQVSEE
KTNEA*

Gene Symbol:ZEB1
Accession:NM_001323674
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
IADGPRCKRRKQANPRRNNVTNYNTVVETNSDSDDEDKLHIVEEESVTDAADCEGVPEDDLPTDQTVLPGRSSEREGNAK
NCWEDDRTPDAFSQLLTCPYCDRGYKRFTSLKEHIKYRHEKNEDNFSCSLCSYTFAYRTQLERHMTSHKSGRDQRHVTQS
GCNRKFKCTECGKAFKYKHHLKEHLRIHSGEKPYECPNCKKRFSHSGSYSSHISSKKCISLIPVNGRPRTGLKTSQCSSP
SLSASPGSPTRPQIRQKIENKPLQEQLSVNQIKTEPVDYEFKPIVVASGINCSTPLQNGVFTGGGPLQATSSPQGMVQAV
VLPTVGLVSPISINLSDIQNVLKVAVDGNVIRQVLENNQANLASKEQETINASPIQQGGHSVISAISLPLVDQDGTTKII
INYSLEQPSQLQVVPQNLKKENPVATNSCKSEKLPEDLTVKSEKDKSFEGGVNDSTCLLCDDCPGDINALPELKHYDLKQ
PTQPPPLPAAEAEKPESSVSSATGDGNLSPSQPPLKNLLSLLKAYYALNAQPSAEELSKIADSVNLPLDVVKKWFEKMQA
GQISVQSSEPSSPEPGKVNIPAKNNDQPQSANANEPQDSTVNLQSPLKMTNSPVLPVGSTTNGSRSSTPSPSPLNLSSSR
NTQGYLYTAEGAQEEPQVEPLDLSLPKQQGELLERSTITSVYQNSVYSVQEEPLNLSCAKKEPQKDSCVTDSEPVVNVIP
PSANPINIAIPTVTAQLPTIVAIADQNSVPCLRALAANKQTILIPQVAYTYSTTVSPAVQEPPLKVIQPNGNQDERQDTS
SEGVSNVEDQNDSDSTPPKKKMRKTENGMYACDLCDKIFQKSSSLLRHKYEHTGKRPHECGICKKAFKHKHHLIEHMRLH
SGEKPYQCDKCGKRFSHSGSYSQHMNHRYSYCKREAEERDSTEQEEAGPEILSNEHVGARASPSQGDSDERESLTREEDE
DSEKEEEEEDKEMEELQEEKECEKPQGDEEEEEEEEEVEEEEVEEAENEGEEAKTEGLMKDDRAESQASSLGQKVGESSE
QVSEEKTNEA*

Gene Symbol:ZEB1
Accession:NM_001323665
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425692
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001174094
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323663
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323675
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323658
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323678
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323676
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323662
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323671
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323664
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323666
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323673
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425690
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323661
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323677
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323657
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323659
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323660
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425686
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323672
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425683
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425682
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001128128
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323656
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425693
Location:INTRON

Gene Symbol:ZEB1-AS1
Accession:NR_148975
Location:INTRON;NON-CODING

Gene Symbol:ZEB1-AS1
Accession:NR_148979
Location:INTRON;NON-CODING

Gene Symbol:ZEB1-AS1
Accession:NR_148978
Location:INTRON;NON-CODING

Gene Symbol:ZEB1-AS1
Accession:NR_148976
Location:INTRON;NON-CODING

Gene Symbol:ZEB1-AS1
Accession:NR_148977
Location:INTRON;NON-CODING

Gene Symbol:ZEB1-AS1
Accession:NR_024284
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000579251 CLINVAR
  RCV003991031 CLINVAR
dbSNP (RS) rs1554797626 CLINVAR
MedGen C1836724 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC130003630 CLINVAR
  ZEB1 CLINVAR
  ZEB1-AS1 CLINVAR
OMIM 189909 CLINVAR
  609141 CLINVAR
  613270 CLINVAR
  616915 CLINVAR