Genomic variant #0000000438

Individual ID 00000091
Chromosome 14
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.88431969T>C
DNA change (hg38) g.87965625T>C
Published as -
ISCN -
DB-ID GALC_000003 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00059 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALC NM_000153.3 ./. 9 c.913A>G r.(?) p.(Ile305Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000091 DNA SEQ-NG - - GALC, IGHMBP2, MYO5A, NHLRC1, SMPD1 5 Global Variome, with Curator vacancy