Variant #0000143284 (NC_000004.11:g.3215835T>C, HTT(NM_002111.6):c.6925T>C)

Individual ID 00081414
Chromosome 4
Allele Parent #2
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.3215835T>C
DNA change (hg38) g.3214108T>C
Published as -
ISCN -
DB-ID HTT_000061 See all 34 reported entries
Variant remarks Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message.
Reference Kay, submitted EJHG
ClinVar ID -
dbSNP ID rs362331
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.42936 View details
Owner Chris Kay
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-10-04 07:17:53 +02:00 (CEST)
Date last edited 2018-08-27 16:58:59 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HTT NM_002111.6 -/- 50 c.6925T>C C1 r.(?) p.(Tyr2309His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081527 DNA SEQ;arraySNP;PCR - - HTT 139 Chris Kay