RGD:156245002 Rat Genome Database

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Variant: RGD:156245002 -  Homo sapiens

RGD ID: 156245002
ClinVar ID: CV2313299
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BPNT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 220,236,188
GRCh38 1 220,062,846
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286149.2:c.418A>G
NM_001286151.2:c.418A>G
NM_001286150.2:c.475A>G
NM_006085.6:c.583A>G
More...
10/04/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:BPNT1
Accession:NM_001286151
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTV
LIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTARSHSNKLVTDCVAAMNPDAV
LRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYA
SRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_006711114
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEELVVWV
DPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYENNEKQQLREHRNEAKAGPDAVLGRTIWGVLGLGAFGFQ
LKEVPAGKHIITTARSHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGK
LTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_017000043
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEELVVWV
DPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTAR
SHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDV
KHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_005272998
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSE
EVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYENN
EKQQLREHRNEAKAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTARSHSNKLVTDCVAAMNPDAVLRVGGAGNKI
IQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNA
LVP*

Gene Symbol:BPNT1
Accession:XM_005272999
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSE
EVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYENN
EKQQLREHRNEAKAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTARSHSNKLVTDCVAAMNPDAVLRVGGAGNKI
IQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNA
LVP*

Gene Symbol:BPNT1
Accession:NM_006085
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSE
EVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAG
PDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTARSHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFAS
PGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_011509063
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTV
LIGIAYEGKAIAGVINQPYYNYENNEKQQLREHRNEAKAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTARSHSN
KLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMN
SAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:NM_001286150
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEELVVWV
DPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTAR
SHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDV
KHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_005273000
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSE
EVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAG
PDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTARSHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFAS
PGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:NM_001286149
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYSAIKEEDLVVWVDPLDGTKEYTEGLLDNVTV
LIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTARSHSNKLVTDCVAAMNPDAV
LRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYA
SRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_047429467
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEELVVWV
DPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYENNEKQQLREHRNEAKAGPDAVLGRTIWGVLGLGAFGFQ
LKEVPAGKHIITTARSHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGK
LTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP*

Gene Symbol:BPNT1
Accession:XM_047429666
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_011509065
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_005273005
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_017000045
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_005273004
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_047429624
Location:INTRON

Gene Symbol:BPNT1
Accession:XM_047429573
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004161541 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene BPNT1 CLINVAR
OMIM 604053 CLINVAR