Variant #0000000157 (NC_000011.9:g.111739379C>T, HTT(NM_002111.6):c.348-2680C=)

Individual ID 00000029, 00081414
Chromosome 11
Allele Parent #1
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.111739379C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID ALG9_000016
Variant remarks Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message.
Reference PubMed: Almomani 2011 {dbSNP:10502151}
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 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= A1axA5a AMR-X r.(?) p.(=)
ALG9 NM_024740.2 ?/. - c.352G>A - r.(?) p.(Val118Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000029 DNA SEQ-NG - - ALG9, ASPM, B3GLCT, BBS1, CBS, CC2D1A, CDK5RAP2, DLG3, DNMT3B, DPM1, DPP3, GLI3, JAG1, KRAS, MECP2, MPDU1, NLGN4X, NSD1, PHF8, PMM2, RAI1, REST, SATB2, SCN8A, SHANK3, SLC35C1, TCF4, TSC1, UPF3B, ZEB2, ZNF41 45 Global Variome, with Curator vacancy
0000081527 DNA SEQ;arraySNP;PCR - - HTT 139 Chris Kay