Variant #0000712850 (NC_000012.11:g.?, POC1B(NM_172240.2):c.?)

Individual ID 00327548
Chromosome 12
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as T246M
ISCN -
DB-ID ALX1_000001 See all 94 reported entries
Variant remarks variant not possible
Reference PubMed: Gu 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POC1B NM_172240.2 +?/. - c.? r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000328763 DNA SEQ;SEQ-NG - WES - 1 Johan den Dunnen