RGD:11089182 Rat Genome Database

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Variant: RGD:11089182 -  Homo sapiens

RGD ID: 11089182
RS ID: rs376670657
ClinVar ID: CV228988
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124909421  MYLK  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 123,368,045
GRCh38 3 123,649,198
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029111.1:g.240105C>G
NC_000003.12:g.123649198G>C
NC_000003.11:g.123368045G>C
NM_053028.4:c.4082-4C>G
More... 		12/31/2019 intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM; none provided; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LOC124909421
Accession:XR_007096038
Location:EXON;NON-CODING

Gene Symbol:MYLK
Accession:XM_047448182
Location:INTRON

Gene Symbol:MYLK
Accession:XM_011512860
Location:INTRON

Gene Symbol:MYLK
Accession:NM_001321309
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006471
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006472
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006473
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453537
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448184
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053031
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006469
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448187
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448185
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448188
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053028
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453534
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453532
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448183
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053026
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448186
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053032
Location:INTRON

Gene Symbol:MYLK
Accession:XM_011512861
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053027
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053025
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006470
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000214485 CLINVAR
  RCV000234085 CLINVAR
  RCV001579485 CLINVAR
  RCV002315649 CLINVAR
dbSNP (RS) rs376670657 CLINVAR
MedGen C3151077 CLINVAR
  C3661900 CLINVAR
  C4707243 CLINVAR
  CN169374 CLINVAR
NCBI Gene MYLK CLINVAR
OMIM 600922 CLINVAR
  613780 CLINVAR