Variant #0000518269 (NC_000003.11:g.148903153G>A, NM_032383.3:c.*13144G>A (HPS3))

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.148903153G>A
DNA change (hg38) g.149185366G>A
Published as CP(NM_000096.3):c.2158C>T (p.R720W), CP(NM_000096.4):c.2158C>T (p.(Arg720Trp), p.R720W)
ISCN -
DB-ID CP_000026 See all 5 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00022 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2025-05-05 21:14:00 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CP NM_000096.3 ?/. - c.2158C>T r.(?) p.(Arg720Trp)
HPS3 NM_032383.3 ?/. - c.*13144G>A r.(=) p.(=)


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