Genomic variant #0000144271

Individual ID 00081364
Chromosome 4
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.3230421_3230423del
DNA change (hg38) g.3228694_3228696del
Published as delGAG
ISCN -
DB-ID HTT_000093 See all 15 reported entries
Variant remarks -
Reference Kay, submitted EJHG
ClinVar ID -
dbSNP ID rs149109767
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Chris Kay




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

DNA/Legacy     
HTT NM_002111.6 -/- 58 c.7928_7930del A1b EUR - r.(?) p.(Glu7923del) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081477 DNA SEQ;arraySNP;PCR - - HTT 140 Chris Kay