Variant #0000334644 (NC_000023.10:g.71521800C>G, CITED1(NM_004143.3):c.355G>C)

Chromosome X
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.71521800C>G
DNA change (hg38) g.72301950C>G
Published as CITED1(NM_001144885.1):c.433G>C (p.(Gly145Arg))
ISCN -
DB-ID CITED1_000003
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00163 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CITED1 NM_004143.3 ?/. - c.355G>C r.(?) p.(Gly119Arg)