Genomic variant #0000000829

Individual ID 00000031
Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.36330277C>G
DNA change (hg38) g.35839375C>G
Published as -
ISCN -
DB-ID NPHS1_000004 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) 0.04698 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPHS1 NM_004646.3 ?/. - c.2971G>C - r.(?) p.(Val991Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000031 DNA SEQ-NG - - ADA, ATP7B, CYP21A2, DPYD, ETFB, FKTN, GAA, GLB1, IGHMBP2, NHLRC1, NPHS1, SERPINA1, TMEM67, WNT10A 17 LOVD-team, but with Curator vacancy