RGD:8622283 Rat Genome Database

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Variant: RGD:8622283 -  Homo sapiens

RGD ID: 8622283
RS ID: rs267607491
ClinVar ID: CV77301
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DES  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 220,290,678
GRCh38 2 219,425,956
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_380t1:c.1379G>T
LRG_380:g.12580G>T
NG_008043.1:g.12580G>T
NC_000002.12:g.219425956G>T
More... 		05/19/2020 missense|missense variant likely pathogenic|not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:DES
Accession:NM_001382709
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 316
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP
SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR
ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK
KVHEEDLLNVKMALDVEIATYRKLLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVIEATQ
QQHEVL*

Gene Symbol:DES
Accession:NM_001382710
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 437
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP
SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR
ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK
KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQE
MMEYRHQIQSYTCEIDALKGTDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRINLPIQTY
SALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVIEATQQQHEVL*

Gene Symbol:DES
Accession:NM_001382713
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 370
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP
SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR
ELRRQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQEMMEYRHQIQS
YTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLE
GEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVIEATQQQHEVL*

Gene Symbol:DES
Accession:NM_001927
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 460
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP
SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR
ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK
KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQE
MMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDV
EIATYRKLLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVIEATQQQHEVL*

Gene Symbol:DES
Accession:NM_001382711
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 453
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP
SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR
ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK
KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQE
MMEYRHQIQSYTCEIDALKGTMRELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRK
LLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVIEATQQQHEVL*

Gene Symbol:DES
Accession:NM_001382708
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 459
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP
SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR
ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRDVDAATLARIDLERRIESLNEEIAFLKK
VHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQEM
MEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVE
IATYRKLLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVIEATQQQHEVL*

Gene Symbol:DES
Accession:NM_001382712
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000056792 CLINVAR
dbSNP (RS) rs267607491 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene DES CLINVAR
OMIM 125660 CLINVAR