RGD:11592047 Rat Genome Database

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Variant: RGD:11592047 -  Homo sapiens

RGD ID: 11592047
RS ID: rs560639262
ClinVar ID: CV292084
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYLK  MYLK-AS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 123,332,857
GRCh38 3 123,614,010
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.275293C>G
NC_000003.12:g.123614010G>C
NC_000003.11:g.123332857G>C
NM_001321309.2:c.*95C>G
More... 		06/14/2016 3 prime utr variant uncertain significance AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYLK
Accession:NM_053028
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:NM_053031
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_011512861
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_017006472
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_017006473
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:NM_001321309
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_011512860
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_017006469
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_017006471
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_047448183
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_047448187
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_047448188
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_024453532
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:NM_053027
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_024453537
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_047448185
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_024453534
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_047448186
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:NM_053025
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:NM_053032
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_047448184
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_047448182
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:NM_053026
Location:3UTRS;EXON

Gene Symbol:MYLK
Accession:XM_017006470
Location:3UTRS;EXON

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 Information

Database Acc Id Source(s)
ClinVar RCV000334830 CLINVAR
dbSNP (RS) rs560639262 CLINVAR
MedGen C3151077 CLINVAR
NCBI Gene MYLK CLINVAR
  MYLK-AS1 CLINVAR
OMIM 600922 CLINVAR
  613780 CLINVAR