Genomic variant #0000001162

Individual ID 00000063, 00081419
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.18122506G>A
DNA change (hg38) g.18122275G>A
Published as -
ISCN -
DB-ID NHLRC1_000001 See all 63 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.33701 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

DNA/Legacy     
HTT NM_002111.6 -/- 2i c.348-2680C= A1a AMR r.(?) p.(=) -
NHLRC1 NM_198586.2 ?/. - c.332C>T - r.(?) p.(Pro111Leu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000063 DNA SEQ-NG - - ADA, ATP7B, COL7A1, ETFB, GLB1, LYST, MEFV, NHLRC1, NPHS1, NTRK1, SERPINA1 13 LOVD-team, but with Curator vacancy
0000081532 DNA SEQ;arraySNP;PCR - - HTT 140 Chris Kay