Variant #0000352657 (NC_000022.10:g.33777920G>A, LARGE(NM_004737.4):c.1116C>T)

Individual ID 00152659
Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.33777920G>A
DNA change (hg38) g.33381934G>A
Published as -
ISCN -
DB-ID LARGE_000038
Variant remarks -
Reference from website {DBsub-Emory}
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Madhuri Hegde
Database submission license No license selected
Created by Madhuri Hegde
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LARGE NM_004737.4 ?/. 10 c.1116C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153517 DNA SEQ - - LARGE 1 Madhuri Hegde