Variant #0000652548 (NC_000009.11:g.101589211C>T, GALNT12(NM_024642.4):c.719C>T)

Individual ID 00294691
Chromosome 9
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.101589211C>T
DNA change (hg38) g.98826929C>T
Published as -
ISCN -
DB-ID GALNT12_000035
Variant remarks 3 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs59362219
Origin Germline
Segregation -
Frequency 3/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00055 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 ?/. - c.719C>T r.(?) p.(Pro240Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295859 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq