Variant #0001042995 (NC_000019.9:g.42797901C>A, NM_015125.3:c.3953C>A (CIC))

Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.42797901C>A
DNA change (hg38) -
Published as CIC(NM_001386298.1):c.6680C>A (p.(Thr2227Asn))
ISCN -
DB-ID CIC_000142
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2025-05-05 21:14:00 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CIC NM_001386298.1 ?/. - c.6680C>A r.(?) p.(Thr2227Asn)
PAFAH1B3 NM_002573.3 ?/. - c.*3329G>T r.(=) p.(=)
CIC NM_015125.3 ?/. - c.3953C>A r.(?) p.(Thr1318Asn)
PRR19 NM_199285.2 ?/. - c.-8761C>A r.(?) p.(=)


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