RGD:26902836 Rat Genome Database

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Variant: RGD:26902836 -  Homo sapiens

RGD ID: 26902836
RS ID: rs371068881
ClinVar ID: CV858257
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126861896  MYH6  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 23,855,798
GRCh38 14 23,386,589
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_389t1:c.4685G>T
NM_002471.4:c.4685G>T
LRG_389:g.26689G>T
NG_023444.1:g.26689G>T
More... 		07/24/2020 missense variant uncertain significance Atrial septal defect 3; Dilated cardiomyopathy 1EE; Familial hypertrophic cardiomyopathy 1; Familial hypertrophic cardiomyopathy 14; Hypertrophic cardiomyopathy 14; HYPERTROPHIC MYOCARDIOPATHY; MYH7-Related Familial Hypertrophic Cardiomyopathy; none provided; Sick sinus syndrome 3, susceptibility to
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:MYH6
Accession:NM_002471
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 1562
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTDAQMADFGAAAQYLRKSEKERLEAQTRPFDIRTECFVPDDKEEFVKAKILSREGGKVIAETENGKTVTVKEDQVLQQN
PPKFDKIEDMAMLTFLHEPAVLFNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYNAEVVAAYRGKKRSEAPPHIFSISDN
AYQYMLTDRENQSILITGESGAGKTVNTKRVIQYFASIAAIGDRGKKDNANANKGTLEDQIIQANPALEAFGNAKTVRND
NSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERNYHIFYQILSNKKPELLDMLLVTNNPYDYAFVSQGEVS
VASIDDSEELMATDSAFDVLGFTSEEKAGVYKLTGAIMHYGNMKFKQKQREEQAEPDGTEDADKSAYLMGLNSADLLKGL
CHPRVKVGNEYVTKGQSVQQVYYSIGALAKAVYEKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCIN
FTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMFPKATDMTFKAKLYDNHLGK
SNNFQKPRNIKGKQEAHFSLIHYAGTVDYNILGWLEKNKDPLNETVVALYQKSSLKLMATLFSSYATADTGDSGKSKGGK
KKGSSFQTVSALHRENLNKLMTNLRTTHPHFVRCIIPNERKAPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDF
RQRYRILNPVAIPEGQFIDSRKGTEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDERLSRIITRMQAQARGQLMR
IEFKKIVERRDALLVIQWNIRAFMGVKNWPWMKLYFKIKPLLKSAETEKEMATMKEEFGRIKETLEKSEARRKELEEKMV
SLLQEKNDLQLQVQAEQDNLNDAEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKKDIDDLE
LTLAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQVEEDKVNSLSKSKVKLEQQVDDLEGSL
EQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKLQLEEKLKKKEFDINQQNSKIEDEQVLALQLQKKLKENQARIEEL
EEELEAERTARAKVEKLRSDLSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHAD
SVAELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKVSRTLEDQANEYRVKLEEAQRSLNDFTTQRA
KLQTENGELARQLEEKEALISQLTRGKLSYTQQMEDLKRQLEEEGKAKNALAHALQSARHDCDLLREQYEEETEAKAELQ
RVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQDAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAA
AAALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISDLTEQLGE
GGKNVHELEKVRKQLEVEKLELQSALEEAEASLEHEEGKILLAQLEFNQIKAEIERKLAEKDEEMEQAKRNHQRVVDSLQ
TSLDAETRSRNEVLRVKKKMEGDLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRN
NLLQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMESDLTQLQSEVEEAVQECRNAEEKAKKA
ITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEAEQIALKGGKKQLQKLEARVRELEGELEAEQKRNAESVK
GMRKSERRIKELTYQTEEDKKNLLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVN
KLRAKSRDIGAKQKMHDEE*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:28771489  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001089614 CLINVAR
  RCV001322572 CLINVAR
  RCV002223267 CLINVAR
  RCV002339390 CLINVAR
  RCV002482159 CLINVAR
dbSNP (RS) rs371068881 CLINVAR
MedGen C0007194 CLINVAR
  C2750467 CLINVAR
  C3495498 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene LOC126861896 CLINVAR
  MYH6 CLINVAR
OMIM 160710 CLINVAR
  192600 CLINVAR
  613251 CLINVAR
  613252 CLINVAR
  614089 CLINVAR
  614090 CLINVAR