All variants in the MYLK2 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.1104C>T r.(?) p.(Phe368=) - benign g.30414621C>T g.31826818C>T MYLK2(NM_033118.3):c.1104C>T (p.F368=) - MYLK2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1104C>T r.(=) p.(=) - likely benign g.30414621C>T g.31826818C>T - - MYLK2_000025 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6089088 Germline - 3/2795 individuals - 0 - Mohammed Faruq
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