Variant #0000142019 (NC_000004.11:g.3161446C=, HTT(NM_002111.6):c.3754-563C=)

Individual ID 00081366
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.3161446C=
DNA change (hg38) -
Published as -
ISCN -
DB-ID HTT_000053 See all 122 reported entries
Variant remarks Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference Kay, submitted EJHG
ClinVar ID -
dbSNP ID rs3025838
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
Date created 2016-10-04 07:17:53 +02:00 (CEST)
Date last edited 2017-01-31 08:18:10 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HTT NM_002111.6 -/- 28i c.3754-563C= C1 r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081479 DNA SEQ;arraySNP;PCR - - HTT 122 Chris Kay