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     
-/. - c.1356A>C benign r.(?) p.(Gln452His) g.26860240T>G - HPS4(NM_022081.5):c.1356A>C (p.Q452H) - HPS4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend