Variant #0000873907 (NC_000003.11:g.132401603G>C, NM_153240.4:c.3756C>G (NPHP3))

Individual ID 00414704
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.132401603G>C
DNA change (hg38) g.132682759G>C
Published as NPHP3 3:133884293 (hg18) het CM032020
ISCN -
DB-ID NPHP3_000003 See all 3 reported entries
Variant remarks non-causative, heterozygous
Reference PubMed: Bell 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00069 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-02 11:28:48 +02:00 (CEST)
Date last edited 2025-06-08 08:19:41 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NPHP3 NM_153240.4 -/. - c.3756C>G r.(?) p.(Ser1252Arg)
NPHP3-ACAD11 NR_037804.1 -/. - n.3762C>G r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415985 DNA;RNA SEQ-NG blood - GALT 14 LOVD


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