Variant #0000653334 (NC_000023.10:g.148585718dup, IDS(NM_000202.5):c.209dup)

Individual ID 00295477
Chromosome X
Allele Parent #1
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.148585718dup
DNA change (hg38) g.149504189dup
Published as -
ISCN -
DB-ID IDS_000253
Variant remarks 2 heterozygous, no homozygous; Clinindb (India)
Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message.
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs797044671
Origin Germline
Segregation -
Frequency 2/2779 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDS NM_000202.5 +/. - c.209dup r.(?) p.(His70Glnfs*29)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296645 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq