Variant #0000987656 (NC_000023.10:g.43832550C>T, NM_000266.3:c.-208G>A (NDP))

Individual ID 00451542
Chromosome X
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.43832550C>T
DNA change (hg38) g.43973304C>T
Published as -
ISCN -
DB-ID NDP_000121 See all 2 reported entries
Variant remarks ACMG PM1, PP3
Reference PubMed: Basharat 2024
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Rabia Basharat
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-06-10 15:00:36 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NDP NM_000266.3 ?/. - c.-208G>A r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000453143 DNA SEQ;SEQ-NG - smMIPs, WGS - 1 Rabia Basharat


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