Variant #0000518258 (NC_000003.11:g.148899900C>T, HPS3(NM_032383.3):c.*9891C>T)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.148899900C>T
DNA change (hg38) g.149182113C>T
Published as CP(NM_000096.3):c.2446G>A (p.V816I)
ISCN -
DB-ID CP_000019 See all 2 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) 0.00048 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CP NM_000096.3 -?/. - c.2446G>A r.(?) p.(Val816Ile)
HPS3 NM_032383.3 -?/. - c.*9891C>T r.(=) p.(=)