Genomic variant #0000060522

Individual ID 00033125
Chromosome 2
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.96950323C>T
DNA change (hg38) g.96284585C>T
Published as -
ISCN -
DB-ID SNRNP200_000003 See all 4 reported entries
Variant remarks -
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00384 View details
Owner Kornelia Neveling
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SNRNP200 NM_014014.4 ?/. 31 c.4165G>A r.(spl?) p.(Val1389Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033193 DNA SEQ;SEQ-NG-S - - C2orf71, SEMA4A, SNRNP200 4 Kornelia Neveling