Genomic variant #0000000129

Individual ID 00000061
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.46655645C>T
DNA change (hg38) g.46189973C>T
Published as -
ISCN -
DB-ID POMGNT1_000035 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) 0.00861 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
POMGNT1 NM_001243766.1 ./. - c.1666G>A - r.(?) p.(Asp556Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000061 DNA SEQ-NG - - ADA, ATP7B, BTD, ETFB, GLB1, HEXB, HSPG2, MTHFR, POMGNT1, SERPINA1, SMPD1 11 LOVD-team, but with Curator vacancy