RGD:329385212 Rat Genome Database

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Variant: RGD:329385212 -  Homo sapiens

RGD ID: 329385212
ClinVar ID: CV2432054
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRIM50  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 72,738,560
GRCh38 7 73,324,562
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001281450.1:c.226G>A
NM_001281451.1:c.226G>A
NM_178125.3:c.226G>A
NG_023242.2:g.1407C>T
More... 		01/20/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TRIM50
Accession:XM_011515788
Location:5UTRS;INTRON

Gene Symbol:TRIM50
Accession:XM_047419880
Location:5UTRS;INTRON

Gene Symbol:TRIM50
Accession:NM_178125
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWQVSLPELEDRLQCPICLEVFKEPLMLQCGHSYCKGCLVSLSCHLDAELRCPVCRQAVDGSSSLPNVSLARVIKALRL
PGDPEPKVCVHHRNPLSLFCEKDQELICGLCGLLGSHQHHPVTPVSTVYSRMKEELAALISELKQEQKKVDELIAKLVNN
RTRIVNESDVFSWVIRREFQELHHLVDEEKARCLEGIGGHTRGLVASLDMQLEQAQGTRERLAQAECVLEQFGNEDHHKF
IRKFHSMASRAEMPQARPLEGAFSPISFKPGLHQADIKLTVWKRLFRKVLPAPEPLKLDPATAHPLLELSKGNTVVQCGL
LAQRRASQPERFDYSTCVLASRGFSCGRHYWEVVVGSKSDWRLGVIKGTASRKGKLNRSPEHGVWLIGLKEGRVYEAFAC
PRVPLPVAGHPHRIGLYLHYEQGELTFFDADRPDDLRPLYTFQADFQGKLYPILDTCWHERGSNSLPMVLPPPSGPGPLS
PEQPTKL*

Gene Symbol:TRIM50
Accession:NM_001281450
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWQVSLPELEDRLQCPICLEVFKEPLMLQCGHSYCKGCLVSLSCHLDAELRCPVCRQAVDGSSSLPNVSLARVIKALRL
PGDPEPKVCVHHRNPLSLFCEKDQELICGLCGLLGSHQHHPVTPVSTVYSRMKEELAALISELKQEQKKVDELIAKLVNN
RTRIVNESDVFSWVIRREFQELHHLVDEEKARCLEGIGGHTRGLVASLDMQLEQAQGTRERLAQAECVLEQFGNEDHHKF
IRFHSMASRAEMPQARPLEGAFSPISFKPGLHQADIKLTVWKRLFRKVLPAPEPLKLDPATAHPLLELSKGNTVVQCGLL
AQRRASQPERFDYSTCVLASRGFSCGRHYWEVVVGSKSDWRLGVIKGTASRKGKLNRSPEHGVWLIGLKEGRVYEAFACP
RVPLPVAGHPHRIGLYLHYEQGELTFFDADRPDDLRPLYTFQADFQGKLYPILDTCWHERGSNSLPMVLPPPSGPGPLSP
EQPTKL*

Gene Symbol:TRIM50
Accession:NM_001281451
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWQVSLPELEDRLQCPICLEVFKEPLMLQCGHSYCKGCLVSLSCHLDAELRCPVCRQAVDGSSSLPNVSLARVIKALRL
PGDPEPKVCVHHRNPLSLFCEKDQELICGLCGLLGSHQHHPVTPVSTVYSRMKEELAALISELKQEQKKVDELIAKLVNN
RTRIVNESDVFSWVIRREFQELHHLVDEEKARCLEGIGGHTRGLVASLDMQLEQAQGTRERLAQAECVLEQFGNEDHHKF
IRKFHSMASRAEMPQARPLEGAFSPISFKPGLHQADIKLTVWKRLFRKVLPAPEPLKLDPATAHPLLELSKGNTVVQCGL
LAQRRASQPERFDYSTCVLASRGFSCGRHYWEVVVGSKSDWRLGVIKGTASRKGKLNRSPEHGVWLIGLKEGRVYEAFAC
PRVPLPVAGHPHRIGLYLHYEQGELTFFDADRPDDLRPLYTFQADFQGKLYPILDTCWHERGSNSLPMVLPPPSGPGPLS
PEQPTKL*

Gene Symbol:TRIM50
Accession:XM_011515787
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWQVSLPELEDRLQCPICLEVFKEPLMLQCGHSYCKGCLVSLSCHLDAELRCPVCRQAVDGSSSLPNVSLARVIKALRL
PGDPEPKVCVHHRNPLSLFCEKDQELICGLCGLLGSHQHHPVTPVSTVYSRMKEELAALISELKQEQKKVDELIAKLVNN
RTRIVNESDVFSWVIRREFQELHHLVDEEKARCLEGIGGHTRGLVASLDMQLEQAQGTRERLAQAECVLEQFGNEDHHKF
IRKFHSMASRAEMPQARPLEGAFSPISFKPGLHQADIKLTVWKRLFRKVLPGSSPVLAPSRPWG*

Gene Symbol:TRIM50
Accession:XM_011515789
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWQVSLPELEDRLQCPICLEVFKEPLMLQCGHSYCKGCLVSLSCHLDAELRCPVCRQAVDGSSSLPNVSLARVIKALRL
PGDPEPKVCVHHRNPLSLFCEKDQELICGLCGLLGSHQHHPVTPVSTVYSRMKEELAALISELKQEQKKVDELIAKLVNN
RTRIVNESDVFSWVIRREFQELHHLVDEEKARCLEGIGGHTRGLVASLDMQLEQAQGTRERLAQAECVLEQFGNEDHHKF
IRFHSMASRAEMPQARPLEGAFSPISFKPGLHQADIKLTVWKRLFRKVLPAPEPLKLDPATAHPLLELSKGNTVVQCGLL
AQRRASQPERFDYSTCVLASRGFSCGRHYWEVVVGSKSDWRLGVIKGTASRKGKLNRSPEHGVWLIGLKEGRVYEAFACP
RVPLPVAGHPHRIGLYLHYEQGELTFFDADRPDDLRPLYTFQADFQGKLYPILDTCWHERGSNSLPMVLPPPSGPGPLSP
EQPTKL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004249205 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TRIM50 CLINVAR
OMIM 612548 CLINVAR