Genomic variant #0000442539

Individual ID 00210053
Chromosome 19
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.3834902C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID ZFR2_000001
Variant remarks -
Reference PubMed: Vadgama 2019, Journal: Vadgama 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00082 View details
Owner Nirmal Vadgama
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ZFR2 NM_015174.1 +?/. - c.133G>A - r.(?) p.(Val45Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211112 DNA SEQ-NG Blood WES - 1 Nirmal Vadgama