Genomic variant #0000000155

Individual ID 00000010, 00081412
Chromosome 10
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.50682080G>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID ERCC6_000003
Variant remarks -
Reference -
dbSNP ID -
Germline/Somatic/De novo Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

Class.     

RNA change     

Protein     

DNA/Legacy     
ERCC6 NM_000124.2 ?/. - c.2591C>G - - r.(?) p.(Ser864*) -
HTT NM_002111.6 -/- 2i c.348-2680C= A1a AMR - r.(?) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000010 DNA NGS - - ACADM, ATP7B, BTD, CLN3, CPT1A, DGUOK, ERCC6, ETFB, NHLRC1, PAH 12 LOVD-team, but with Curator vacancy
0000081525 DNA SEQ;arraySNP;PCR - - HTT 139 Chris Kay