Variant #0000000153 (NC_000010.10:g.50690735G>A, HTT(NM_002111.6):c.348-2680C>G)

Individual ID 00000057, 00081410
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.50690735G>A
DNA change (hg38) g.49482689G>A
Published as -
ISCN -
DB-ID ERCC6_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 View details
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.2167C>T - r.(?) p.(Gln723*)
RPGR NM_001034853.1 +/. 12 c.3009 _3038del - r.? p.(Gly1005_Glu1014del)
HTT NM_002111.6 -/- 2i c.348-2680C>G C1 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
0000081523 DNA SEQ;arraySNP;PCR - - HTT 140 Chris Kay