Variant #0000608377 (NC_000003.11:g.148859081G>A, HPS3(NM_032383.3):c.885-1G>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.148859081G>A
DNA change (hg38) g.149141294G>A
Published as HPS3(NM_032383.4):c.885-1G>A
ISCN -
DB-ID CP_000080
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_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.*32420C>T r.(=) p.(=)
HPS3 NM_032383.3 +/. - c.885-1G>A r.spl? p.?