Variant #0000618886 (NC_000023.10:g.109924823G>A, CHRDL1(NM_145234.3):c.1037C>T)

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.109924823G>A
DNA change (hg38) g.110681595G>A
Published as CHRDL1(NM_001143981.1):c.1043C>T (p.T348M)
ISCN -
DB-ID CHRDL1_000019
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-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.1037C>T r.(?) p.(Thr346Met)