RGD:34892172 Rat Genome Database

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Variant: RGD:34892172 -  Homo sapiens

RGD ID: 34892172
RS ID: rs2059656037
ClinVar ID: CV915076
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYLK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 123,382,949
GRCh38 3 123,664,102
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_053026.4:c.3778+3G>A
NM_001321309.2:c.3457+3G>A
NM_053025.4:c.3985+3G>A
NM_053027.4:c.3985+3G>A
More... 		03/16/2020 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MYLK
Accession:NM_001321309
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453537
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448188
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448183
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448187
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053025
Location:INTRON

Gene Symbol:MYLK
Accession:XM_011512860
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006473
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448185
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448184
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053026
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053031
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053027
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006471
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053028
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448186
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453532
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053032
Location:INTRON

Gene Symbol:MYLK
Accession:XM_011512861
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453534
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448182
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006472
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006469
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006470
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001175606 CLINVAR
dbSNP (RS) rs2059656037 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MYLK CLINVAR
OMIM 600922 CLINVAR