Genomic variant #0000442987

Individual ID 00210417
Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.30738878T>C
DNA change (hg38) g.30720761T>C
Published as NM_000167.5:c.1339+20T>C
ISCN -
DB-ID GK_000034
Variant remarks -
Reference from website {DBsub-Emory}
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.05274 View details
Owner Madhuri Hegde
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GK NM_001205019.1 -/. 17i c.1357+20T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211493 DNA SEQ - - GK 1 Madhuri Hegde