Variant #0000400995 (NC_000023.10:g.71521867G>C, CITED1(NM_004143.3):c.288C>G)

Individual ID 00173530
Chromosome X
Allele Parent #1
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.71521867G>C
DNA change (hg38) g.72302017G>C
Published as H96Q
ISCN -
DB-ID CITED1_000001 See all 3 reported entries
Variant remarks recurrent, found 46 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 46/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.82747 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CITED1 NM_004143.3 ?/. 3 c.288C>G r.(?) p.(His96Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174413 DNA SEQ - - CNKSR2 1 Lucy Raymond