All variants in the AMOT gene

Information The variants shown are described using the NM_133265.2 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.1625C>T r.(?) p.(Ala542Val) - VUS g.112022530G>A g.112779302G>A AMOT(NM_001113490.1):c.2852C>T (p.A951V, p.(Ala951Val)) - AMOT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1625C>T r.(?) p.(Ala542Val) - likely benign g.112022530G>A g.112779302G>A AMOT(NM_001113490.1):c.2852C>T (p.A951V, p.(Ala951Val)) - AMOT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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