Variant #0000630757 (NC_000023.10:g.43817767T>C, NM_000266.3:c.125A>G (NDP))

Individual ID 00275473
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.43817767T>C
DNA change (hg38) g.43958521T>C
Published as -
ISCN -
DB-ID NDP_000073 See all 2 reported entries
Variant remarks 0/36 control individuals
Reference PubMed: Shastry 1997
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 4/41
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Jasmine Chen
Database submission license No license selected
Created by Jasmine Chen
Date created 2020-01-04 20:13:56 +01:00 (CET)
Date last edited 2020-01-10 10:45:24 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NDP NM_000266.3 +/. - c.125A>G r.(?) p.(His42Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000276632 DNA PCR - direct sequencing NDP 1 Jasmine Chen


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