Variant #0000277730 (NC_000003.11:g.148880109T>C, HPS3(NM_032383.3):c.2281T>C)

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.148880109T>C
DNA change (hg38) g.149162322T>C
Published as HPS3(NM_032383.4):c.2281T>C (p.S761P)
ISCN -
DB-ID HPS3_000020
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CP NM_000096.3 ?/. - c.*11392A>G r.(=) p.(=)
HPS3 NM_032383.3 ?/. - c.2281T>C r.(?) p.(Ser761Pro)