Genomic variant #0000647464

Individual ID 00289607
Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.179886769G>A
DNA change (hg38) g.179917634G>A
Published as -
ISCN -
DB-ID TOR1AIP1_000022
Variant remarks 5 heterozygous, no homozygous; Clinindb (India)
Reference Faruq 2020, submtted
ClinVar ID -
dbSNP ID rs149690630
Origin Germline
Segregation -
Frequency 5/2790 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00161 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TOR1AIP1 NM_001267578.1 -?/. - c.1150G>A - r.(?) p.(Asp384Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290775 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq