Variant #0000000119 (NC_000001.10:g.5924535G>C, HTT(NM_002111.6):c.348-2680C=)

Individual ID 00000014, 00081376
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.5924535G>C
DNA change (hg38) g.5864475G>C
Published as -
ISCN -
DB-ID NPHP4_000006 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00016 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     

DNA/Legacy     
HTT NM_002111.6 -/- 2i c.348-2680C= A1a AMR r.(?) p.(=) -
NPHP4 NM_015102.4 ?/. - c.3859C>G - r.(?) p.(Gln1287Glu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000014 DNA SEQ-NG - - ALG6, ATP7B, CFTR, DPYD, ETFB, GLB1, GNPTAB, HEXB, IGHMBP2, MYO5A, NHLRC1, NPHP4, NPHS1, PKHD1, SERPINA1, SFTPB, SGSH, TSFM 22 Global Variome, with Curator vacancy
0000081489 DNA SEQ;arraySNP;PCR - - HTT 136 Chris Kay