Genomic variant #0000647463

Individual ID 00289606
Chromosome 1
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.179883190G>A
DNA change (hg38) g.179914055G>A
Published as -
ISCN -
DB-ID TOR1AIP1_000021 See all 2 reported entries
Variant remarks 49 heterozygous; Clinindb (India)
Reference Faruq 2020, submtted
ClinVar ID -
dbSNP ID rs2274955
Origin Germline
Segregation -
Frequency 49/2791 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00023 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TOR1AIP1 NM_001267578.1 -/. - c.967+1G>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290774 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq