Variant #0000518243 (NC_000003.11:g.148863214A>G, HPS3(NM_032383.3):c.1044A>G)

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.148863214A>G
DNA change (hg38) g.149145427A>G
Published as HPS3(NM_032383.4):c.1044A>G (p.L348=)
ISCN -
DB-ID CP_000052
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CP NM_000096.3 -?/. - c.*28287T>C r.(=) p.(=)
HPS3 NM_032383.3 -?/. - c.1044A>G r.(?) p.(Leu348=)