All variants in the GNAL gene

Information The variants shown are described using the NM_001142339.2 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.1071_1072del r.(?) p.(Asn358HisfsTer21) - likely pathogenic g.11881059_11881060del g.11881060_11881061del GNAL(NM_182978.4):c.1302_1303delGA (p.N435Hfs*21) - GNAL_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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