All transcript variants in gene HPS4

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

3 entries on 1 page. Showing entries 1 - 3.
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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.250A>G benign r.(?) p.(Ile84Val) g.26872985T>C - HPS4(NM_022081.5):c.250A>G (p.I84V) - HPS4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.250A>G likely benign r.(?) p.(Ile84Val) g.26872985T>C - HPS4(NM_022081.5):c.250A>G (p.I84V) - HPS4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.250A>G likely benign r.(?) p.(Ile84Val) g.26872985T>C - HPS4(NM_022081.5):c.250A>G (p.I84V) - HPS4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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