Variant #0000647462 (NC_000001.10:g.179851707C>G, TOR1AIP1(NM_001267578.1):c.70C>G)

Individual ID 00289605
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.179851707C>G
DNA change (hg38) g.179882572C>G
Published as -
ISCN -
DB-ID TOR1AIP1_000005 See all 2 reported entries
Variant remarks 3 heterozygous, no homozygous; Clinindb (India)
Reference Faruq 2020, submtted
ClinVar ID -
dbSNP ID rs146976883
Origin Germline
Segregation -
Frequency 3/2783 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00155 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.70C>G r.(?) p.(Pro24Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290773 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq