Variant #0000813717 (NC_000003.11:g.132438619G>A, NM_153240.4:c.449C>T (NPHP3))

Individual ID 00385081
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.132438619G>A
DNA change (hg38) g.132719775G>A
Published as NPHP3 NM_153240: g.2685C>T, c.449C>T, p.A150V
ISCN -
DB-ID NPHP3_000044 See all 5 reported entries
Variant remarks -
Reference PubMed: Xu 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00161 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-10-06 17:52:46 +02:00 (CEST)
Date last edited 2024-03-26 15:03:03 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NPHP3 NM_153240.4 +?/. - c.449C>T r.(?) p.(Ala150Val)
NPHP3-ACAD11 NR_037804.1 +?/. - n.553C>T r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386310 DNA SEQ-NG - targeted next-generation sequencing NPHP3 1 LOVD


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