Genomic variant #0000143731

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.3224602C=
DNA change (hg38) -
Published as -
ISCN -
DB-ID HTT_000045 See all 93 reported entries
Variant remarks -
Reference Kay, submitted EJHG
ClinVar ID -
dbSNP ID rs362275
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 -/- 54i c.7470+388C= A1b EUR - r.(?) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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