Variant #0000274357 (NC_000003.11:g.148894088C>T, HPS3(NM_032383.3):c.*4079C>T)

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.148894088C>T
DNA change (hg38) g.149176301C>T
Published as CP(NM_000096.3):c.3130G>A (p.D1044N)
ISCN -
DB-ID CP_000006
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) 0.00013 View details
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.3130G>A r.(?) p.(Asp1044Asn)
HPS3 NM_032383.3 ?/. - c.*4079C>T r.(=) p.(=)