Variant #0000871151 (NC_000023.10:g.109937496G>A, CHRDL1(NM_145234.3):c.670C>T)

Individual ID 00412371
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.109937496G>A
DNA change (hg38) -
Published as C670T (R224C)
ISCN -
DB-ID CHRDL1_000027
Variant remarks -
Reference PubMed: Halvardson 2016
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
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 ?/. - c.670C>T r.(?) p.(Arg224Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000413643 DNA SEQ;SEQ-NG - - - 1 Johan den Dunnen