Variant #0000652549 (NC_000009.11:g.101594103G>A, GALNT12(NM_024642.4):c.781G>A)

Individual ID 00294692
Chromosome 9
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.101594103G>A
DNA change (hg38) g.98831821G>A
Published as -
ISCN -
DB-ID GALNT12_000004 See all 9 reported entries
Variant remarks 68 heterozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs41306504
Origin Germline
Segregation -
Frequency 68/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01197 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.781G>A r.(?) p.(Asp261Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295860 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq