Variant #0000131612 (NC_000004.11:g.3074795=, HTT(NM_002111.6):c.-1758A=)

Individual ID 00081389
Chromosome 4
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.3074795=
DNA change (hg38) g.3073068=
Published as -
ISCN -
DB-ID HTT_000082 See all 85 reported entries
Variant remarks -
Reference Kay, submitted EJHG
ClinVar ID -
dbSNP ID rs762855
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Chris Kay
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HTT NM_002111.6 -/- _1 c.-1758A= A2a r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081502 DNA SEQ;arraySNP;PCR - - HTT 121 Chris Kay