Genomic variant #0000348768

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.208992955G>C
DNA change (hg38) -
Published as CRYGC(NM_020989.3):c.497C>G (p.Ser166Cys)
ISCN -
DB-ID CRYGC_000021
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) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CRYGB NM_005210.3 ?/. - c.*14407C>G VUS r.(=) p.(=)
CRYGD NM_006891.3 ?/. - c.-3758C>G VUS r.(?) p.(=)
CRYGC NM_020989.3 ?/. - c.497C>G VUS r.(?) p.(Ser166Cys)