RGD:127245286 Rat Genome Database

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Variant: RGD:127245286 -  Homo sapiens

RGD ID: 127245286
RS ID: rs908450520
ClinVar ID: CV1091966
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126806791  MYLK  MYLK-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 123,348,478
GRCh38 3 123,629,631
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.4434-5T>C
NM_053028.4:c.4755-2690T>C
NM_053026.4:c.4755-5T>C
NM_053027.4:c.4962-2690T>C
More... 		02/27/2020 intron variant likely benign AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYLK-AS1
Accession:NR_038266
Location:EXON;NON-CODING

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

Gene Symbol:MYLK
Accession:NM_001321309
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006469
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453537
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453534
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448186
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053026
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053027
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053031
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053032
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006473
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006470
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448183
Location:INTRON

Gene Symbol:MYLK
Accession:XM_011512861
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448187
Location:INTRON

Gene Symbol:MYLK
Accession:XM_011512860
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448184
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006472
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448182
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053028
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453532
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448188
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053025
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448185
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006471
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001424279 CLINVAR
dbSNP (RS) rs908450520 CLINVAR
MedGen C3151077 CLINVAR
NCBI Gene LOC126806791 CLINVAR
  MYLK CLINVAR
  MYLK-AS1 CLINVAR
OMIM 600922 CLINVAR
  613780 CLINVAR