Genomic variant #0000039615

Individual ID 00019411
Chromosome 19
Allele Maternal (confirmed)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.36342200C>T
DNA change (hg38) g.35851298C>T
Published as -
ISCN -
DB-ID NPHS1_000147
Variant remarks -
Reference PubMed: Santín et al. 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Elisabet Ars Criach




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPHS1 NM_004646.3 ?/. 3 c.361G>A - r.(?) p.(Glu121Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019396 DNA SEQ;SEQ-NG-I - - NPHS1, PLCE1 3 Elisabet Ars Criach