Variant #0000185158 (NC_000023.10:g.585660del, SHOX(NM_006883.2):c.-433+323del)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.585660del
DNA change (hg38) g.624925del
Published as c.-433+322delT
ISCN -
DB-ID SHOX_000379
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs72342908
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Ralph Roeth
Database submission license No license selected
Created by Ralph Roeth
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Function/GVS     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     

Predict/CADD     
SHOX NM_000451.3 ?/? - 1i c.-433+323del r.(=) p.(=) - -
SHOX NM_006883.2 ?/? - 1i c.-433+323del r.(=) p.(=) - -