Variant #0000408681 (NC_000009.11:g.101606425C>T, GALNT12(NM_024642.4):c.1392C>T)

Individual ID 00183595
Chromosome 9
Allele Unknown
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.101606425C>T
DNA change (hg38) g.98844143C>T
Published as -
ISCN -
DB-ID GALNT12_000013
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs35616709
Origin Germline
Segregation -
Frequency 1/206
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00011 View details
Owner Laura Valle
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 ?/. 8 c.1392C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184563 DNA SEQ - - GALNT12 1 Laura Valle