RGD:401735524 Rat Genome Database

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Variant: RGD:401735524 -  Homo sapiens

RGD ID: 401735524
ClinVar ID: CV2687605
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZBTB45  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 59,027,957
GRCh38 19 58,516,590
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032792.4:c.1084C>T
NM_032792.2:c.1084C>T
NP_001303907.1:p.Pro362Ser
NP_001303908.1:p.Pro362Ser
More... 		03/17/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZBTB45
Accession:NM_001316981
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAEAVHHIHLQNFSRSLLETLNGQRLGGHFCDVTVRIREASLRAHRCVLAAGSPFFQDKLLLGHSEIRVPPVVPAQTV
RQLVEFLYSGSLVVAQGEALQVLTAASVLRIQTVIDECTQIIARARAPGTSAPTPLPTPVPPPLAPAQLRHRLRHLLAAR
PPGHPGAAHSRKQRQPARLQLPAPPTPAKAEGPDADPSLSAAPDDRGDEDDEESDDETDGEDGEGGGPGEGQAPPSFPDC
AAGFLTAAADSACEEPPAPTGLADYSGAGRDFLRGAGSAEDVFPDSYVSTWHDEDGAVPEGCPTETPVQPDCILSGSRPP
GVKTPGPPVALFPFHLGAPGPPAPPPSAPSGPAPAPPPAFYSTLQPEAAPSTQLGEVPAPSAAPTTAPSGTPARTPGAEP
PTYECSHCRKTFSSRKNYTKHMFIHSGEKPHQCAVCWRSFSLRDYLLKHMVTHTGVRAFQCAVCAKRFTQKSSLNVHMRT
HRPERAPCPACGKVFSHRALLERHLAAHPAP*

Gene Symbol:ZBTB45
Accession:NM_001316979
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAEAVHHIHLQNFSRSLLETLNGQRLGGHFCDVTVRIREASLRAHRCVLAAGSPFFQDKLLLGHSEIRVPPVVPAQTV
RQLVEFLYSGSLVVAQGEALQVLTAASVLRIQTVIDECTQIIARARAPGTSAPTPLPTPVPPPLAPAQLRHRLRHLLAAR
PPGHPGAAHSRKQRQPARLQLPAPPTPAKAEGPDADPSLSAAPDDRGDEDDEESDDETDGEDGEGGGPGEGQAPPSFPDC
AAGFLTAAADSACEEPPAPTGLADYSGAGRDFLRGAGSAEDVFPDSYVSTWHDEDGAVPEGCPTETPVQPDCILSGSRPP
GVKTPGPPVALFPFHLGAPGPPAPPPSAPSGPAPAPPPAFYSTLQPEAAPSTQLGEVPAPSAAPTTAPSGTPARTPGAEP
PTYECSHCRKTFSSRKNYTKHMFIHSGEKPHQCAVCWRSFSLRDYLLKHMVTHTGVRAFQCAVCAKRFTQKSSLNVHMRT
HRPERAPCPACGKVFSHRALLERHLAAHPAP*

Gene Symbol:ZBTB45
Accession:NM_001316980
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAEAVHHIHLQNFSRSLLETLNGQRLGGHFCDVTVRIREASLRAHRCVLAAGSPFFQDKLLLGHSEIRVPPVVPAQTV
RQLVEFLYSGSLVVAQGEALQVLTAASVLRIQTVIDECTQIIARARAPGTSAPTPLPTPVPPPLAPAQLRHRLRHLLAAR
PPGHPGAAHSRKQRQPARLQLPAPPTPAKAEGPDADPSLSAAPDDRGDEDDEESDDETDGEDGEGGGPGEGQAPPSFPDC
AAGFLTAAADSACEEPPAPTGLADYSGAGRDFLRGAGSAEDVFPDSYVSTWHDEDGAVPEGCPTETPVQPDCILSGSRPP
GVKTPGPPVALFPFHLGAPGPPAPPPSAPSGPAPAPPPAFYSTLQPEAAPSTQLGEVPAPSAAPTTAPSGTPARTPGAEP
PTYECSHCRKTFSSRKNYTKHMFIHSGEKPHQCAVCWRSFSLRDYLLKHMVTHTGVRAFQCAVCAKRFTQKSSLNVHMRT
HRPERAPCPACGKVFSHRALLERHLAAHPAP*

Gene Symbol:ZBTB45
Accession:XM_006723445
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAEAVHHIHLQNFSRSLLETLNGQRLGGHFCDVTVRIREASLRAHRCVLAAGSPFFQDKLLLGHSEIRVPPVVPAQTV
RQLVEFLYSGSLVVAQGEALQVLTAASVLRIQTVIDECTQIIARARAPGTSAPTPLPTPVPPPLAPAQLRHRLRHLLAAR
PPGHPGAAHSRKQRQPARLQLPAPPTPAKAEGPDADPSLSAAPDDRGDEDDEESDDETDGEDGEGGGPGEGQAPPSFPDC
AAGFLTAAADSACEEPPAPTGLADYSGAGRDFLRGAGSAEDVFPDSYVSTWHDEDGAVPEGCPTETPVQPDCILSGSRPP
GVKTPGPPVALFPFHLGAPGPPAPPPSAPSGPAPAPPPAFYSTLQPEAAPSTQLGEVPAPSAAPTTAPSGTPARTPGAEP
PTYECSHCRKTFSSRKNYTKHMFIHSGEKPHQCAVCWRSFSLRDYLLKHMVTHTGVRAFQCAVCAKRFTQKSSLNVHMRT
HRPERAPCPACGKVFSHRALLERHLAAHPAP*

Gene Symbol:ZBTB45
Accession:NM_032792
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAEAVHHIHLQNFSRSLLETLNGQRLGGHFCDVTVRIREASLRAHRCVLAAGSPFFQDKLLLGHSEIRVPPVVPAQTV
RQLVEFLYSGSLVVAQGEALQVLTAASVLRIQTVIDECTQIIARARAPGTSAPTPLPTPVPPPLAPAQLRHRLRHLLAAR
PPGHPGAAHSRKQRQPARLQLPAPPTPAKAEGPDADPSLSAAPDDRGDEDDEESDDETDGEDGEGGGPGEGQAPPSFPDC
AAGFLTAAADSACEEPPAPTGLADYSGAGRDFLRGAGSAEDVFPDSYVSTWHDEDGAVPEGCPTETPVQPDCILSGSRPP
GVKTPGPPVALFPFHLGAPGPPAPPPSAPSGPAPAPPPAFYSTLQPEAAPSTQLGEVPAPSAAPTTAPSGTPARTPGAEP
PTYECSHCRKTFSSRKNYTKHMFIHSGEKPHQCAVCWRSFSLRDYLLKHMVTHTGVRAFQCAVCAKRFTQKSSLNVHMRT
HRPERAPCPACGKVFSHRALLERHLAAHPAP*

Gene Symbol:ZBTB45
Accession:NM_001316982
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAEAVHHIHLQNFSRSLLETLNGQRLGGHFCDVTVRIREASLRAHRCVLAAGSPFFQDKLLLGHSEIRVPPVVPAQTV
RQLVEFLYSGSLVVAQGEALQVLTAASVLRIQTVIDECTQIIARARAPGTSAPTPLPTPVPPPLAPAQLRHRLRHLLAAR
PPGHPGAAHSRKQRQPARLQLPAPPTPAKAEGPDADPSLSAAPDDRGDEDDEESDDETDGEDGEGGGPGEGQAPPSFPDC
AAGFLTAAADSACEEPPAPTGLADYSGAGRDFLRGAGSAEDVFPDSYVSTWHDEDGAVPEGCPTETPVQPDCILSGSRPP
GVKTPGPPVALFPFHLGAPGPPAPPPSAPSGPAPAPPPAFYSTLQPEAAPSTQLGEVPAPSAAPTTAPSGTPARTPGAEP
PTYECSHCRKTFSSRKNYTKHMFIHSGEKPHQCAVCWRSFSLRDYLLKHMVTHTGVRAFQCAVCAKRFTQKSSLNVHMRT
HRPERAPCPACGKVFSHRALLERHLAAHPAP*

Gene Symbol:ZBTB45
Accession:NM_001316978
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAEAVHHIHLQNFSRSLLETLNGQRLGGHFCDVTVRIREASLRAHRCVLAAGSPFFQDKLLLGHSEIRVPPVVPAQTV
RQLVEFLYSGSLVVAQGEALQVLTAASVLRIQTVIDECTQIIARARAPGTSAPTPLPTPVPPPLAPAQLRHRLRHLLAAR
PPGHPGAAHSRKQRQPARLQLPAPPTPAKAEGPDADPSLSAAPDDRGDEDDEESDDETDGEDGEGGGPGEGQAPPSFPDC
AAGFLTAAADSACEEPPAPTGLADYSGAGRDFLRGAGSAEDVFPDSYVSTWHDEDGAVPEGCPTETPVQPDCILSGSRPP
GVKTPGPPVALFPFHLGAPGPPAPPPSAPSGPAPAPPPAFYSTLQPEAAPSTQLGEVPAPSAAPTTAPSGTPARTPGAEP
PTYECSHCRKTFSSRKNYTKHMFIHSGEKPHQCAVCWRSFSLRDYLLKHMVTHTGVRAFQCAVCAKRFTQKSSLNVHMRT
HRPERAPCPACGKVFSHRALLERHLAAHPAP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004300826 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZBTB45 CLINVAR