All transcript variants in gene HLTF

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

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Effect     

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     
./. - 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 - - - 0 - Marjolijn JL Ligtenberg
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