Unique variants in the MLXIPL gene

Information The variants shown are described using the NM_032951.2 transcript reference sequence.

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

Reported     

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     
-?/. 1 - c.620C>T r.(?) p.(Ala207Val) - likely benign g.73020440G>A g.73606110G>A MLXIPL(NM_032951.2):c.620C>T (p.(Ala207Val)) - MLXIPL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.890T>C r.(?) p.(Met297Thr) - VUS g.73020029A>G - MLXIPL(NM_032951.2):c.890T>C (p.M297T) - MLXIPL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1128C>A r.(?) p.(Phe376Leu) - VUS g.73011987G>T - MLXIPL(NM_032951.3):c.1128C>A (p.F376L) - MLXIPL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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