Variant #0000823625 (NC_000023.10:g.43817758A>C, NM_000266.3:c.134T>G (NDP))

Individual ID 00391796
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.43817758A>C
DNA change (hg38) g.43958512A>C
Published as NDP c.134T>G, p.V45G
ISCN -
DB-ID NDP_000105
Variant remarks hemizygous
Reference PubMed: Li 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-11-19 11:12:21 +01:00 (CET)
Date last edited 2021-11-19 11:12:38 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NDP NM_000266.3 +/. 2 c.134T>G r.(?) p.(Val45Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000393039 DNA SEQ-NG blood - NDP 1 LOVD


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