All variants in the MYLK2 gene

Information The variants shown are described using the NM_033118.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.4G>A r.(?) p.(Ala2Thr) - likely benign g.30407387G>A g.31819584G>A MYLK2(NM_033118.3):c.4G>A (p.A2T) - MYLK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.4G>A r.(?) p.(Ala2Thr) - likely benign g.30407387G>A g.31819584G>A MYLK2(NM_033118.3):c.4G>A (p.A2T) - MYLK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.4G>A r.(?) p.(Ala2Thr) - VUS g.30407387G>A g.31819584G>A - - MYLK2_000004 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117502839 Germline - 1/2795 individuals - 0 - Mohammed Faruq
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