Genomic variant #0000000836

Individual ID 00000101
Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.36340506A>C
DNA change (hg38) g.35849604A>C
Published as -
ISCN -
DB-ID NPHS1_000005 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00161 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.658T>G - r.(?) p.(Ser220Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000101 DNA SEQ-NG - - ATP7B, ETFB, GLB1, NPHS1, SERPINA1 6 LOVD-team, but with Curator vacancy