Unique variants in gene HLTF

Information The variants shown are described using the NM_003071.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
./. 1 - c.33G>A - r.(?) p.(Trp11*) g.148802664C>T g.149084877C>T NM_003071.3(HLTF):c.33G>A p.(Trp11*) - HLTF_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
?/. 1 - c.2536_2540del VUS r.(?) p.(Arg846Glufs*25) g.148757444_148757448del - HLTF(NM_003071.3):c.2536_2540del (p.(Arg846GlufsTer25)) - HLTF_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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