All variants in the HEXA gene

Information The variants shown are described using the NM_000520.4 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.1154C>T r.(?) p.(Pro385Leu) - VUS g.72639044G>A g.72346703G>A - - HEXA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.1154C>T r.(?) p.(Pro385Leu) - likely pathogenic (recessive) g.72639044G>A g.72346703G>A - - HEXA_000021 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline - - - 0 - Johan den Dunnen
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