Genomic variant #0000000120

Individual ID 00000075
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.5940243G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID NPHP4_000002 See all 7 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Germline/De novo/Somatic Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.01589 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
NPHP4 NM_015102.2 ?/. - c.2542C>T - r.(?) p.(Arg848Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000075 DNA NGS - - ATP7B, CDH23, ETFB, GAA, HESX1, IGHMBP2, LAMA2, MEFV, NPHP4, SERPINA1 13 LOVD-team, but with Curator vacancy