All variants in the M1AP gene

Information The variants shown are described using the NM_138804.4 transcript reference sequence.

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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.1166C>T r.(?) p.(Pro389Leu)] - pathogenic (recessive) g.74789459G>A g.74562332G>A - - M1AP_000005 - PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - - Germline - - - 0 - Johan den Dunnen
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