RGD:156311318 Rat Genome Database

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Variant: RGD:156311318 -  Homo sapiens

RGD ID: 156311318
ClinVar ID: CV2031578
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYLK  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 123,401,159
GRCh38 3 123,682,312
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001321309.2:c.3038-2A>G
NM_053026.4:c.3359-2A>G
NM_053028.4:c.3359-2A>G
NM_053025.4:c.3566-2A>G
More... 		10/05/2022 splice acceptor variant likely pathogenic AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYLK
Accession:XM_017006470
Location:5UTRS;INTRON

Gene Symbol:MYLK
Accession:XM_017006471
Location:5UTRS;INTRON

Gene Symbol:MYLK
Accession:XM_047448188
Location:5UTRS;INTRON

Gene Symbol:MYLK
Accession:XM_047448186
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448187
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453532
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053032
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006472
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053028
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053031
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053027
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006469
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448184
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448183
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448182
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448185
Location:INTRON

Gene Symbol:MYLK
Accession:NM_001321309
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453537
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053025
Location:INTRON

Gene Symbol:MYLK
Accession:XM_011512860
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053026
Location:INTRON

Gene Symbol:MYLK
Accession:XM_011512861
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453534
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006473
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:21055718   PMID:28492532   PMID:28602422  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002716552 CLINVAR
MedGen C3151077 CLINVAR
NCBI Gene MYLK CLINVAR
OMIM 600922 CLINVAR
  613780 CLINVAR