RGD:11586157 Rat Genome Database

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Variant: RGD:11586157 -  Homo sapiens

RGD ID: 11586157
RS ID: rs751696363
ClinVar ID: CV288396
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYLK  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 123,457,917
GRCh38 3 123,739,070
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.150233C>T
NC_000003.12:g.123739070G>A
NC_000003.11:g.123457917G>A
NM_001321309.2:c.-106-8C>T
More... 		06/21/2021 intron variant likely benign|uncertain significance 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:MYLK
Accession:NM_001321309
Location:5UTRS;INTRON

Gene Symbol:MYLK
Accession:NM_053025
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453534
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448184
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448186
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053028
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453537
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448188
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448187
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053027
Location:INTRON

Gene Symbol:MYLK
Accession:XM_011512860
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448182
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053026
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053031
Location:INTRON

Gene Symbol:MYLK
Accession:XM_011512861
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053032
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006472
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006470
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453532
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006473
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006471
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448183
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006469
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448185
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000285868 CLINVAR
  RCV000648755 CLINVAR
  RCV001584049 CLINVAR
dbSNP (RS) rs751696363 CLINVAR
MedGen C3151077 CLINVAR
  C3661900 CLINVAR
  C4707243 CLINVAR
NCBI Gene MYLK CLINVAR
OMIM 600922 CLINVAR
  613780 CLINVAR