Variant #0000877982 (NC_000023.10:g.43817780G>A, NM_000266.3:c.112C>T (NDP))

Individual ID 00416943
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.43817780G>A
DNA change (hg38) g.43958534G>A
Published as NDP C>T mutation in exon 2 resulting in a substitution of arginine by cysteine (p.Arg38Cys)
ISCN -
DB-ID NDP_000003 See all 6 reported entries
Variant remarks no nucleotide annotation, extrapolated from protein and databases; hemizygous
Reference PubMed: Chamney 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-09-12 11:09:50 +02:00 (CEST)
Date last edited 2022-09-12 11:10:05 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NDP NM_000266.3 +?/. 2 c.112C>T r.(?) p.(Arg38Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000418226 DNA SEQ blood - NDP 1 LOVD


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