Genomic variant #0000274464

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.208993135C>T
DNA change (hg38) -
Published as CRYGC(NM_020989.3):c.317G>A (p.S106N)
ISCN -
DB-ID CRYGC_000016
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00284 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CRYGB NM_005210.3 -?/. - c.*14227G>A likely benign r.(=) p.(=)
CRYGD NM_006891.3 -?/. - c.-3938G>A likely benign r.(?) p.(=)
CRYGC NM_020989.3 -?/. - c.317G>A likely benign r.(?) p.(Ser106Asn)