Variant #0000400906 (NC_000023.10:g.109931856T>C, CHRDL1(NM_145234.3):c.951A>G)

Individual ID 00173249
Chromosome X
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.109931856T>C
DNA change (hg38) g.110688628T>C
Published as K317K
ISCN -
DB-ID CHRDL1_000006 See all 4 reported entries
Variant remarks recurrent, found 74 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 74/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.34187 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     
CHRDL1 NM_145234.3 -?/. 9 c.951A>G r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174132 DNA SEQ - - CTPS2 1 Lucy Raymond