Variant #0000253769 (NC_000003.11:g.132434071A>G, NC_000003.11(NM_153240.4):c.824-9T>C (NPHP3))

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.132434071A>G
DNA change (hg38) g.132715227A>G
Published as NPHP3(NM_153240.4):c.824-9T>C
ISCN -
DB-ID NPHP3_000039
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) 0 View details
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 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UBA5 NM_024818.3 -/. - c.*38701A>G r.(=) p.(=)
ACAD11 NM_032169.4 -/. - c.-55476T>C r.(?) p.(=)
NPHP3 NM_153240.4 -/. - c.824-9T>C r.(=) p.(=)
NPHP3-ACAD11 NR_037804.1 -/. - n.928-9T>C r.(?) -


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