Variant #0000814381 (NC_000002.11:g.208988961A>G, CRYGD(NM_006891.3):c.127T>C)

Individual ID 00385472
Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.208988961A>G
DNA change (hg38) g.208124237A>G
Published as CRYGD c.127T>C p.(Trp43Arg) het
ISCN -
DB-ID CRYGD_000037
Variant remarks heterozygous
Reference PubMed: Lenassi 2020
ClinVar ID -
dbSNP ID -
Origin Germline
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYGD NM_006891.3 +?/. - c.127T>C r.(?) p.(Trp43Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386701 DNA SEQ-NG blood 114 genes panel tested CRYGD 1 LOVD