Variant #0000000154 (NC_000010.10:g.50678470_50678471del, HTT(NM_002111.6):c.348-2680C=)

Individual ID 00000057, 00081411
Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.50678470_50678471del
DNA change (hg38) g.49470424_49470425del
Published as chr10:g.50348475_50348476del
ISCN -
DB-ID ERCC6_000002
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Gerard C.P. Schaafsma
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
ERCC6 NM_000124.2 ?/. - c.3537_3538del - r.(?) p.(Tyr1179*)
HTT NM_002111.6 -/- 2i c.348-2680C= A1a AMR r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000057 DNA SEQ-NG - - ALDOB, ATM, ATP7B, DPYD, ERCC6, ETFB, GAA, IGHMBP2, LAMA2, NHLRC1, NPHS1, SERPINA1 16 Global Variome, with Curator vacancy
0000081524 DNA SEQ;arraySNP;PCR - - HTT 139 Chris Kay