Variant #0000185114 (NC_000023.10:g.587284_587285insTT, SHOX(NM_006883.2):c.-433+1947_-433+1948insTT)

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.587284_587285insTT
DNA change (hg38) g.626549_626550insTT
Published as c.-433+1946_-433+1947insTT
ISCN -
DB-ID SHOX_000420
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs200540309
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+1947_-433+1948insTT r.(=) p.(=) - -
SHOX NM_006883.2 ?/? - 1i c.-433+1947_-433+1948insTT r.(=) p.(=) - -