Variant #0000038901 (NC_000001.10:g.179544726G>T, NM_014625.2:c.274G>T (NPHS2))

Individual ID 00018453
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.179544726G>T
DNA change (hg38) g.179575591C>A
Published as -
ISCN -
DB-ID NPHS2_000002 See all 10 reported entries
Variant remarks Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message.
Reference PubMed: Santín et al. 2011
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Elisabet Ars Criach
Database submission license No license selected
Created by Elisabet Ars Criach
Date created 2014-07-18 18:02:44 +02:00 (CEST)
Date last edited 2014-07-25 16:58:36 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NPHS2 NM_014625.2 +?/. 1 c.274G>T r.(?) p.(Gly92Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000018437 DNA SEQ-NG;SEQ-NG-I - - NPHS2 3 Elisabet Ars Criach


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