All transcript variants in gene HPS4

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

1 entry on 1 page. Showing entry 1.
Legend  

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     
+/. 9i c.706+151C>T - r.(?) p.(=) g.26862041G>A g.26466075G>A - - HPS4_000005 reported as nonsense variant, located in intron (potential exon) PubMed: Yngvadottir 2009 - rs3747129 Unknown - - - 0 - William (Bill) Oetting
Legend