Variant #0000000122 (NC_000001.10:g.5940243G>A, HTT(NM_002111.6):c.348-2680C=)

Individual ID 00000041, 00081379, 00398531
Chromosome 1
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.5940243G>A
DNA change (hg38) g.5880183G>A
Published as -
ISCN -
DB-ID NPHP4_000002 See all 9 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0155 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HTT NM_002111.6 -/- 2i c.348-2680C= A1a AMR r.(?) p.(=)
NPHP4 NM_015102.4 ?/. - c.2542C>T - r.(?) p.(Arg848Trp)
HUWE1 NM_031407.5 +/. _1_84_ c.-426_*1213{2} - r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000041 DNA SEQ-NG - - ATP7A, ATP7B, DPYD, ETFB, IGHMBP2, MPL, MYO5A, NHLRC1, NPHP4, NPHS1, PLP1, SERPINA1 13 Global Variome, with Curator vacancy
0000081492 DNA SEQ;arraySNP;PCR - - HTT 135 Chris Kay
0000399777 DNA arrayCGH - - - 2 Johan den Dunnen