RGD:405797464 Rat Genome Database

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Variant: RGD:405797464 -  Homo sapiens

RGD ID: 405797464
ClinVar ID: CV3263271
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HORMAD2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 30,518,132
GRCh38 22 30,122,143
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001329458.2:c.484C>T
NM_001329457.2:c.748C>T
NM_152510.4:c.748C>T
NC_000022.11:g.30122143C>T
More... 		10/14/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:HORMAD2
Accession:NM_152510
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAQLSHCITIHKASKETVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLDDLSLKILREDKKCPGS
LHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLL
IRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATK
VIDLENNLFWENSTTEIAHQGLDCDEEEECNDHIQRMNFVCSQQSSECSRKKRKVSEPVKVFIPNRK*

Gene Symbol:HORMAD2
Accession:XM_011529914
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAQLSHCITIHKASKETVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLDDLSLKILREDKKCPGS
LHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLL
IRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATK
VIDLENNLFWENSTTEIAHQGLDCDEEEECNDHGLRQRQSPSSLHPSPRVGLAHPRMSQLECLDIPAQRLWYQELSGGGN
AENVAHCAPARPG*

Gene Symbol:HORMAD2
Accession:XM_017028622
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAQLSHCITIHKASKETVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLDDLSLKILREDKKCPGS
LHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLL
IRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATK
VIDLENNLFWENSTTEIAHQGLDCDEEEECNDHGLRQRQSPSSLHPSPRVGLAHPRMSQLECLDIPAQRLWYQELSGGGN
AENVAHCAPARPG*

Gene Symbol:HORMAD2
Accession:XM_017028625
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRVTAYYQMKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLLIRKLYILMQDLEPLPNNVVLTMKL
HYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATKVIDLENNLFWENSTTEIAHQGLDC
DEEEECNDHGLRQRQSPSSLHPSPRVGLAHPRMSQLECLDIPAQRLWYQELSGGGNAENVAHCAPARPG*

Gene Symbol:HORMAD2
Accession:XM_017028626
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MISHSSSTSFESGTNNEDIKKASVLLIRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKE
PINVQVGFVSTGFHSMKVKVMTEATKVIDLENNLFWENSTTEIAHQGLDCDEEEECNDHGLRQRQSPSSLHPSPRVGLAH
PRMSQLECLDIPAQRLWYQELSGGGNAENVAHCAPARPG*

Gene Symbol:HORMAD2
Accession:NM_001329457
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAQLSHCITIHKASKETVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLDDLSLKILREDKKCPGS
LHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLL
IRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATK
VIDLENNLFWENSTTEIAHQGLDCDEEEECNDHIQRMNFVCSQQSSECSRKKRKVSEPVKVFIPNRK*

Gene Symbol:HORMAD2
Accession:NM_001329458
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRVTAYYQMLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLLIRKLYILM
QDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATKVIDLENNL
FWENSTTEIAHQGLDCDEEEECNDHIQRMNFVCSQQSSECSRKKRKVSEPVKVFIPNRK*

Gene Symbol:HORMAD2
Accession:XM_047441154
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAQLSHCITIHKASKETVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLDDLSLKILREDKKCPGS
LHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLL
IRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATK
VIDLENNLFWENSTTEIAHQGLDCDEEEECNDHGLRQRQSPSSLHPSPRVGLAHPRMSQLECLDIPAQRLWYQELSGGGN
AENVAHCAPARPG*

Gene Symbol:HORMAD2
Accession:XM_047441156
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAQLSHCITIHKASKETVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLDDLSLKILREDKKCPGS
LHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLL
IRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATK
VIDLENNLFWENSTTEIAHQGLDCDEEEECNDHIQRMNFVCSQQSSECSRKKRKVSEPVKVFIPNRK*

Gene Symbol:HORMAD2
Accession:XM_047441155
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAQLSHCITIHKASKETVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLDDLSLKILREDKKCPGS
LHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLL
IRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATK
VIDLENNLFWENSTTEIAHQGLDCDEEEECNDHGLRQRQSPSSLHPSPRVGLAHPRMSQLECLDIPAQRLWYQELSGGGN
AENVAHCAPARPG*

Gene Symbol:HORMAD2
Accession:XM_047441157
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRVTAYYQMLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLLIRKLYILM
QDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATKVIDLENNL
FWENSTTEIAHQGLDCDEEEECNDHGLRQRQSPSSLHPSPRVGLAHPRMSQLECLDIPAQRLWYQELSGGGNAENVAHCA
PARPG*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004401910 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HORMAD2 CLINVAR
OMIM 618842 CLINVAR