RGD:405791633 Rat Genome Database

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Variant: RGD:405791633 -  Homo sapiens

RGD ID: 405791633
ClinVar ID: CV3263267
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HORMAD2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 30,494,841
GRCh38 22 30,098,852
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.-176G>A
NM_001329457.2:c.52G>A
NM_152510.4:c.52G>A
NC_000022.11:g.30098852G>A
More... 		02/21/2024 5 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:HORMAD2
Accession:NM_001329458
Location:5UTRS;EXON

Gene Symbol:HORMAD2
Accession:NM_152510
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAQLSHCITIHKASKKTVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLDDLSLKILREDKKCPGS
LHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLL
IRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATK
VIDLENNLFRENSTTEIAHQGLDCDEEEECNDHIQRMNFVCSQQSSECSRKKRKVSEPVKVFIPNRK*

Gene Symbol:HORMAD2
Accession:XM_011529914
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAQLSHCITIHKASKKTVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLDDLSLKILREDKKCPGS
LHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLL
IRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATK
VIDLENNLFRENSTTEIAHQGLDCDEEEECNDHGLRQRQSPSSLHPSPRVGLAHPRMSQLECLDIPAQRLWYQELSGGGN
AENVAHCAPARPG*

Gene Symbol:HORMAD2
Accession:XM_017028622
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAQLSHCITIHKASKKTVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLDDLSLKILREDKKCPGS
LHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLL
IRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATK
VIDLENNLFRENSTTEIAHQGLDCDEEEECNDHGLRQRQSPSSLHPSPRVGLAHPRMSQLECLDIPAQRLWYQELSGGGN
AENVAHCAPARPG*

Gene Symbol:HORMAD2
Accession:NM_001329457
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAQLSHCITIHKASKKTVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLDDLSLKILREDKKCPGS
LHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLL
IRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATK
VIDLENNLFRENSTTEIAHQGLDCDEEEECNDHIQRMNFVCSQQSSECSRKKRKVSEPVKVFIPNRK*

Gene Symbol:HORMAD2
Accession:XM_047441154
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAQLSHCITIHKASKKTVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLDDLSLKILREDKKCPGS
LHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLL
IRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATK
VIDLENNLFRENSTTEIAHQGLDCDEEEECNDHGLRQRQSPSSLHPSPRVGLAHPRMSQLECLDIPAQRLWYQELSGGGN
AENVAHCAPARPG*

Gene Symbol:HORMAD2
Accession:XM_047441156
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAQLSHCITIHKASKKTVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLDDLSLKILREDKKCPGS
LHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLL
IRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATK
VIDLENNLFRENSTTEIAHQGLDCDEEEECNDHIQRMNFVCSQQSSECSRKKRKVSEPVKVFIPNRK*

Gene Symbol:HORMAD2
Accession:XM_047441155
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAQLSHCITIHKASKKTVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLDDLSLKILREDKKCPGS
LHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLL
IRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATK
VIDLENNLFRENSTTEIAHQGLDCDEEEECNDHGLRQRQSPSSLHPSPRVGLAHPRMSQLECLDIPAQRLWYQELSGGGN
AENVAHCAPARPG*

Gene Symbol:HORMAD2
Accession:XM_017028625
Location:INTRON

Gene Symbol:HORMAD2
Accession:XM_017028626
Location:INTRON

Gene Symbol:HORMAD2
Accession:XM_047441157
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004399924 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HORMAD2 CLINVAR
OMIM 618842 CLINVAR