All transcript variants in gene HPS4

Information The variants shown are described using the NM_022081.5 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     
+/. 3 c.57delT - r.(?) p.(fs*) g.26875306delA g.26479340delA - - HPS4_000003 unknown variant 2nd chromosome PubMed: Suzuki 2002, OMIM:var0003 - - Unknown - - - 0 - William (Bill) Oetting
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