Variant #0000254723 (NC_000023.10:g.109937459A>G, CHRDL1(NM_145234.3):c.707T>C)

Chromosome X
Allele Unknown
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.109937459A>G
DNA change (hg38) g.110694231A>G
Published as CHRDL1(NM_001143981.1):c.710T>C (p.M237T)
ISCN -
DB-ID CHRDL1_000012
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) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRDL1 NM_145234.3 -?/. - c.707T>C r.(?) p.(Met236Thr)