Genomic variant #0000000122

Individual ID 00000041, 00081379
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 -
Origin 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)     

Haplotype     

ClassClinical     

RNA change     

Protein     

DNA/Legacy     
HTT NM_002111.6 -/- 2i c.348-2680C= A1a AMR - r.(?) p.(=) -
NPHP4 NM_015102.2 ?/. - c.2542C>T - - r.(?) p.(Arg848Trp) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000041 DNA SEQ-NG - - ATP7A, ATP7B, DPYD, ETFB, IGHMBP2, MPL, MYO5A, NHLRC1, NPHP4, NPHS1, PLP1, SERPINA1 14 LOVD-team, but with Curator vacancy
0000081492 DNA SEQ;arraySNP;PCR - - HTT 135 Chris Kay