Variant #0000880501 (NC_000002.11:g.110600599_111179168del, NM_000272.3:c.0 (NPHP1))

Individual ID 00418887
Chromosome 2
Allele Maternal (confirmed)
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.110600599_111179168del
DNA change (hg38) g.109843022_110421591del
Published as deletion including NPHP1
ISCN -
DB-ID NPHP1_000075 See all 48 reported entries
Variant remarks homozygous
Reference PubMed: Amiri 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-10-10 17:17:24 +02:00 (CEST)
Date last edited 2022-10-10 17:19:51 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NPHP1 NM_000272.3 +/. - c.0 r.0 p.0
NPHP1 NM_001128178.1 +/. - c.-216623_*280769del r.0? p.0?
RGPD5 NM_005054.2 +/. - c.4922-2081_*565695del r.0? p.0?
MALL NM_005434.4 +/. - c.-305799_*242673del r.0? p.0?
LIMS3 NM_033514.4 +/. - c.-55707_*515700del r.0? p.0?
LINC00116 NR_027063.1 +/. - n.-198651_*368507del - -
MIR4267 NR_036225.1 +/. - n.-351549_*226939del - -
MIR4436B1 NR_039941.1 +/. - n.-335068_*243411del - -
MIR4436B2 NR_049830.1 +/. - n.-441831_*136648del - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000420184 DNA SEQ-NG;PCR - whole exome sequencing-based copy number variant (CNV) plus polymerase chain reaction/gel electrophoresis analysis NPHP1 1 LOVD


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