Variant #0000274361 (NC_000003.11:g.148939574C>T, NM_032383.3:c.*49565C>T (HPS3))

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.148939574C>T
DNA change (hg38) g.149221787C>T
Published as CP(NM_000096.3):c.6G>A (p.K2=)
ISCN -
DB-ID CP_000047
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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-06-15 16:29:41 +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.6G>A r.(?) p.(Lys2=)
HPS3 NM_032383.3 -?/. - c.*49565C>T r.(=) p.(=)


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