All variants in the HESX1 gene

Information The variants shown are described using the NM_003865.2 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.478C>T r.(?) p.(Arg160Cys) - likely pathogenic g.57232305G>A g.57198277G>A HESX1(NM_003865.3):c.478C>T (p.R160C) - HESX1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.478C>T r.(?) p.(Arg160Cys) - pathogenic g.57232305G>A g.57198277G>A - - HESX1_000004 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28936702 Germline - 1/2795 individuals - 0 - Mohammed Faruq
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