Genomic variant #0000143401

Individual ID 00081364
Chromosome 4
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.3216815C>G
DNA change (hg38) g.3215088C>G
Published as -
ISCN -
DB-ID HTT_000047 See all 33 reported entries
Variant remarks -
Reference Kay, submitted EJHG
ClinVar ID -
dbSNP ID rs916171
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.46517 View details
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 -/- 50i c.6953-22C>G C1 - r.(?) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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