RGD:11349565 Rat Genome Database

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Variant: RGD:11349565 -  Homo sapiens

RGD ID: 11349565
RS ID: rs374346618
ClinVar ID: CV239083
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105369194  MYLK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 123,427,539
GRCh38 3 123,708,692
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.180611G>A
NC_000003.12:g.123708692C>T
NC_000003.11:g.123427539C>T
NM_001321309.2:c.1612+6G>A
More... 		10/22/2021 intron variant likely benign|uncertain significance AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYLK
Accession:XM_047448188
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006469
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006471
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006470
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006472
Location:INTRON

Gene Symbol:MYLK
Accession:XM_011512861
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006473
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053027
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448186
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053026
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053031
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453534
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448185
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448187
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448182
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453537
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053028
Location:INTRON

Gene Symbol:MYLK
Accession:NM_001321309
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448183
Location:INTRON

Gene Symbol:MYLK
Accession:XM_011512860
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448184
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053025
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053032
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453532
Location:INTRON

Gene Symbol:LOC105369194
Accession:XR_001740871
Location:INTRON;NON-CODING

Gene Symbol:LOC105369194
Accession:XR_924417
Location:INTRON;NON-CODING

Gene Symbol:LOC105369194
Accession:XR_007096037
Location:INTRON;NON-CODING

Gene Symbol:LOC105369194
Accession:XR_007096036
Location:INTRON;NON-CODING

Gene Symbol:LOC105369194
Accession:XR_924418
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000231016 CLINVAR
  RCV004020886 CLINVAR
dbSNP (RS) rs374346618 CLINVAR
MedGen C3151077 CLINVAR
  C4707243 CLINVAR
NCBI Gene MYLK CLINVAR
OMIM 600922 CLINVAR
  613780 CLINVAR