Genomic variant #0000060527

Individual ID 00033095
Chromosome 2
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.96940821T>C
DNA change (hg38) g.96275083T>C
Published as -
ISCN -
DB-ID SNRNP200_000006
Variant remarks predicted to affect function, but insufficient evidence for definite conclusion
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Kornelia Neveling
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SNRNP200 NM_014014.4 +?/. 45 c.6340A>G r.(?) p.(Met2114Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033163 DNA SEQ;SEQ-NG-S - - PDE6B, PRPH2, RGR, SNRNP200 5 Kornelia Neveling