RGD:15142722 Rat Genome Database

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Variant: RGD:15142722 -  Homo sapiens

RGD ID: 15142722
RS ID: rs769544580
ClinVar ID: CV689727
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYLK  MYLK-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 123,345,659
GRCh38 3 123,626,812
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_053025.4:c.5238+6G>A
NC_000003.12:g.123626812C>T
NM_053025.3:c.5238+6G>A
NM_053027.4:c.5085+6G>A
More... 		01/11/2021 intron variant benign|likely benign 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:MYLK
Accession:XM_047448183
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006469
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453537
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448188
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053027
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053032
Location:INTRON

Gene Symbol:MYLK
Accession:NM_001321309
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448184
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053028
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053031
Location:INTRON

Gene Symbol:MYLK
Accession:XM_011512860
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448185
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006472
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006471
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006473
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053026
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006470
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448187
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053025
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453532
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448182
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453534
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448186
Location:INTRON

Gene Symbol:MYLK
Accession:XM_011512861
Location:INTRON

Gene Symbol:MYLK-AS1
Accession:NR_038266
Location:INTRON;NON-CODING

Gene Symbol:MYLK-AS1
Accession:NR_121654
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000865600 CLINVAR
  RCV001170112 CLINVAR
  RCV001446488 CLINVAR
  RCV001527010 CLINVAR
dbSNP (RS) rs769544580 CLINVAR
MedGen C3151077 CLINVAR
  C4707243 CLINVAR
  CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene MYLK CLINVAR
  MYLK-AS1 CLINVAR
OMIM 600922 CLINVAR
  613780 CLINVAR