Genomic variant #0000001318

Individual ID 00000071
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.13764954del
DNA change (hg38) g.13746835delA
Published as -
ISCN -
DB-ID OFD1_000004
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
OFD1 NM_003611.2 +?/. 8 c.710delA - r.(?) p.(Lys237Serfs*6)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000071 DNA SEQ-NG - - ATP7B, ETFB, LAMA2, MTHFR, NHLRC1, NPC1, OFD1, PAH, SERPINA1, SMPD1 12 LOVD-team, but with Curator vacancy