All transcript variants in gene HPS4

Information The variants shown are described using the NM_022081.5 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 8 c.649C>T - r.(?) p.(Arg217*) g.26864537G>A g.26468571G>A - - HPS4_000009 - PubMed: Anderson 2003, OMIM:var0006 - - Unknown - - - 0 - William (Bill) Oetting
+/. - c.649C>T pathogenic r.(?) p.(Arg217*) g.26864537G>A - HPS4(NM_022081.5):c.649C>T (p.R217*) - HPS4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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