RGD:401875835 Rat Genome Database

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Variant: RGD:401875835 -  Homo sapiens

RGD ID: 401875835
ClinVar ID: CV2750110
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYH9  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 36,684,979
GRCh38 22 36,288,933
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_567t1:c.4564G>A
NM_002473.6:c.4564G>A
LRG_567:g.104086G>A
NG_011884.2:g.104086G>A
More... 		02/15/2023 missense variant uncertain significance ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA; Autosomal dominant nonsyndromic deafness 17; BLEEDING DISORDER, PLATELET-TYPE, 6; Deafness, autosomal dominant 17; Deafness, autosomal dominant nonsyndromic sensorineural 17; DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS; Epstein syndrome; Fechtner syndrome; Giant platelet syndrome with thrombocytopenia; Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration; Macrothrombocytopenia and progressive sensorineural deafness; MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS; MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS; MACROTHROMBOCYTOPENIA, NEPHRITIS, AND DEAFNESS; MACROTHROMBOCYTOPENIA, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS; May-Hegglin anomaly; Nonsyndromic hereditary deafness DFNA17; Sebastian platelet syndrome; Sebastian syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYH9
Accession:NM_002473
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 1522
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQQAADKYLYVDKNFINNPLAQADWAAKKLVWVPSDKSGFEPASLKEEVGEEAIVELVENGKKVKVNKDDIQKMNPPKF
SKVEDMAELTCLNEASVLHNLKERYYSGLIYTYSGLFCVVINPYKNLPIYSEEIVEMYKGKKRHEMPPHIYAITDTAYRS
MMQDREDQSILCTGESGAGKTENTKKVIQYLAYVASSHKSKKDQGELERQLLQANPILEAFGNAKTVKNDNSSRFGKFIR
INFDVNGYIVGANIETYLLEKSRAIRQAKEERTFHIFYYLLSGAGEHLKTDLLLEPYNKYRFLSNGHVTIPGQQDKDMFQ
ETMEAMRIMGIPEEEQMGLLRVISGVLQLGNIVFKKERNTDQASMPDNTAAQKVSHLLGINVTDFTRGILTPRIKVGRDY
VQKAQTKEQADFAIEALAKATYERMFRWLVLRINKALDKTKRQGASFIGILDIAGFEIFDLNSFEQLCINYTNEKLQQLF
NHTMFILEQEEYQREGIEWNFIDFGLDLQPCIDLIEKPAGPPGILALLDEECWFPKATDKSFVEKVMQEQGTHPKFQKPK
QLKDKADFCIIHYAGKVDYKADEWLMKNMDPLNDNIATLLHQSSDKFVSELWKDVDRIIGLDQVAGMSETALPGAFKTRK
GMFRTVGQLYKEQLAKLMATLRNTNPNFVRCIIPNHEKKAGKLDPHLVLDQLRCNGVLEGIRICRQGFPNRVVFQEFRQR
YEILTPNSIPKGFMDGKQACVLMIKALELDSNLYRIGQSKVFFRAGVLAHLEEERDLKITDVIIGFQACCRGYLARKAFA
KRQQQLTAMKVLQRNCAAYLKLRNWQWWRLFTKVKPLLQVSRQEEEMMAKEEELVKVREKQLAAENRLTEMETLQSQLMA
EKLQLQEQLQAETELCAEAEELRARLTAKKQELEEICHDLEARVEEEEERCQHLQAEKKKMQQNIQELEEQLEEEESARQ
KLQLEKVTTEAKLKKLEEEQIILEDQNCKLAKEKKLLEDRIAEFTTNLTEEEEKSKSLAKLKNKHEAMITDLEERLRREE
KQRQELEKTRRKLEGDSTDLSDQIAELQAQIAELKMQLAKKEEELQAALARVEEEAAQKNMALKKIRELESQISELQEDL
ESERASRNKAEKQKRDLGEELEALKTELEDTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQEMRQKHSQAVEE
LAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQGKGDSEHKRKKVEAQLQELQVKFNEGERVRTELADKVTKLQV
ELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEENRQKLSLSTKLKQVEDEKNSFREQLEEEEEAKHNLEKQIA
TLHAQVADMKKKMEDSVGCLETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQQELDDLLVDLDHQRQSACNLE
KKQKKFDQLLAEEKTISAKYAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNKQFRTEMEDLMSSKDDVGKSV
HKLEKSKRALEQQVEEMKTQLEELEDELQATEDAKLRLEVNLQAMKAQFERDLQGRDEQSEEKKKQLVRQVREMEAELED
ERKQRSMAVAARKKLEMDLKDLEAHIDSANKNRDEAIKQLRKLQAQMKDCMRELDDTRASREEILAQAKENEKKLKSMEA
EMIQLQEELAAAERAKRQAQQERDELADEIANSSGKGALALEEKRRLEARIAQLEEELEEEQGNTELINDRLKKANLQID
QINTDLNLERSHAQKNENARQQLERQNKELKVKLQEMEGTVKSKYKASITALEAKIAQLEEQLDNETKERQAACKQVRRT
EKKLKDVLLQVDDERRNAEQYKDQADKASTRLKQLKRQLEEAEEEAQRANASRRKLQRELEDATETADAMNREVSSLKNK
LRRGDLPFVVPRRMARKGAGDGSDEEVDGKADGAEAKPAE*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003333541 CLINVAR
  RCV003333542 CLINVAR
MedGen C1863659 CLINVAR
  C5200934 CLINVAR
NCBI Gene MYH9 CLINVAR
OMIM 153640 CLINVAR
  153650 CLINVAR
  155100 CLINVAR
  160775 CLINVAR
  603622 CLINVAR
  605249 CLINVAR
SNOMED CT 236422008 CLINVAR