RGD:8606764 Rat Genome Database

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Variant: RGD:8606764 -  Homo sapiens

RGD ID: 8606764
RS ID: rs139489232
ClinVar ID: CV53111
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTN2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 236,894,607
GRCh38 1 236,731,307
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000001.11:g.236731307T>A
NC_000001.10:g.236894607T>A
NM_001103.2:c.690T>A
NP_001094.1:p.Asp230Glu
More... 		03/21/2023 5 prime utr variant|missense|missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance all ages 1-9 / 100 000 AllHighlyPenetrant; Cardiomyopathies; CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CONGENITAL MYOPATHY 8; Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis; MULTIPLE STRUCTURED CORE DISEASE; Myopathy, congenital, with structured cores and z-line abnormalities; Myopathy, distal, 6, adult-onset, autosomal dominant; none provided; Primary familial hypertrophic cardiomyopathy
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

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

Gene Symbol:ACTN2
Accession:NM_001278343
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNQIEPGVQYNYVYDEDEYMIQEEEWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRNGLKLMLLLEVIS
GERLPKPDRGKMRFHKIANVNKALDYIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLW
CQRKTAPYRNVNIQNFHTSWKDGLGLCALIHRHRPDLIDYSKLNKDDPIGNINLAMEIAEKHLDIPKMLEAEDLVYTARP
DERAIMTYVSCYYHAFAGAQKAETAANRICKVLAVNQENERLMEEYERLASELLEWIRRTIPWLENRTPEKTMQAMQKKL
EDFRDYRRKHKPPKVQEKCQLEINFNTLQTKLRISNRPAFMPSEGKMVSDIAGAWQRLEQAEKGYEEWLLNEIRRLERLE
HLAEKFRQKASTHETWAYGKEQILLQKDYESASLTEVRALLRKHEAFESDLAAHQDRVEQIAAIAQELNELDYHDAVNVN
DRCQKICDQWDRLGTLTQKRREALERMEKLLETIDQLHLEFAKRAAPFNNWMEGAMEDLQDMFIVHSIEEIQSLITAHEQ
FKATLPEADGERQSIMAIQNEVEKVIQSYNIRISSSNPYSTVTMDELRTKWDKVKQLVPIRDQSLQEELARQHANERLRR
QFAAQANAIGPWIQNKMEEIARSSIQITGALEDQMNQLKQYEHNIINYKNNIDKLEGDHQLIQEALVFDNKHTNYTMEHI
RVGWELLLTTIARTINEVETQILTRDAKGITQEQMNEFRASFNHFDRRKNGLMDHEDFRACLISMGYDLGEAEFARIMTL
VDPNGQGTVTFQSFIDFMTRETADTDTAEQVIASFRILASDKPYILAEELRRELPPDQAQYCIKRMPAYSGPGSVPGALD
YAAFSSALYGESDL*

Gene Symbol:ACTN2
Accession:NM_001103
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNQIEPGVQYNYVYDEDEYMIQEEEWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRNGLKLMLLLEVIS
GERLPKPDRGKMRFHKIANVNKALDYIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLW
CQRKTAPYRNVNIQNFHTSWKDGLGLCALIHRHRPDLIDYSKLNKDDPIGNINLAMEIAEKHLDIPKMLEAEDIVNTPKP
DERAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENERLMEEYERLASELLEWIRRTIPWLENRTPEKTMQAMQKKL
EDFRDYRRKHKPPKVQEKCQLEINFNTLQTKLRISNRPAFMPSEGKMVSDIAGAWQRLEQAEKGYEEWLLNEIRRLERLE
HLAEKFRQKASTHETWAYGKEQILLQKDYESASLTEVRALLRKHEAFESDLAAHQDRVEQIAAIAQELNELDYHDAVNVN
DRCQKICDQWDRLGTLTQKRREALERMEKLLETIDQLHLEFAKRAAPFNNWMEGAMEDLQDMFIVHSIEEIQSLITAHEQ
FKATLPEADGERQSIMAIQNEVEKVIQSYNIRISSSNPYSTVTMDELRTKWDKVKQLVPIRDQSLQEELARQHANERLRR
QFAAQANAIGPWIQNKMEEIARSSIQITGALEDQMNQLKQYEHNIINYKNNIDKLEGDHQLIQEALVFDNKHTNYTMEHI
RVGWELLLTTIARTINEVETQILTRDAKGITQEQMNEFRASFNHFDRRKNGLMDHEDFRACLISMGYDLGEAEFARIMTL
VDPNGQGTVTFQSFIDFMTRETADTDTAEQVIASFRILASDKPYILAEELRRELPPDQAQYCIKRMPAYSGPGSVPGALD
YAAFSSALYGESDL*

Gene Symbol:ACTN2
Accession:NR_184402
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:27532257   PMID:28492532   PMID:31983221   PMID:35026164  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000036915 CLINVAR
  RCV000233199 CLINVAR
  RCV000786085 CLINVAR
  RCV000852410 CLINVAR
  RCV002477088 CLINVAR
  RCV003298064 CLINVAR
dbSNP (RS) rs139489232 CLINVAR
MedGen C0878544 CLINVAR
  C2677338 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene ACTN2 CLINVAR
OMIM 102573 CLINVAR
  192600 CLINVAR
  612158 CLINVAR
  618654 CLINVAR
  618655 CLINVAR
SNOMED CT 83978005 CLINVAR
  85898001 CLINVAR