Variant #0000821461 (NC_000003.11:g.93516594_96012342del, ARL13B(NM_182896.2):c.-182674_*2240079del)

Individual ID 00390470
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.93516594_96012342del
DNA change (hg38) -
Published as chr3:g.93516594_96012342del
ISCN -
DB-ID ARL13B_000040
Variant remarks heterozygous
Reference PubMed: Turro 2020
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PROS1 NM_000313.3 +?/. - c.? r.0? p.0?
STX19 NM_001001850.2 +?/. - c.-2265145_*216635del r.0? p.0?
NSUN3 NM_022072.3 +?/. - c.-265377_*2167008del r.0? p.0?
DHFRL1 NM_176815.4 +?/. - c.-2230848_*263198del r.0? p.0?
ARL13B NM_182896.2 +?/. - c.-182674_*2240079del r.0? p.0?
LINC00879 NR_015400.1 +?/. - n.-1140513_*1302170del r.0? p.0?
MTHFD2P1 NR_077228.1 +?/. - n.-610305_*1856673del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000391711 DNA SEQ-NG-I blood whole genome sequencing PROS1 1 LOVD