Variant #0000576856 (NC_000023.10:g.585066G>A, SHOX(NM_006883.2):c.-704G>A)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.585066G>A
DNA change (hg38) g.624331G>A
Published as -
ISCN -
DB-ID SHOX_001281 See all 2 reported entries
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) Retrieve
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Function/GVS     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     

Predict/CADD     
SHOX NM_000451.3 -/. - - c.-704G>A r.(?) p.(=) - -
SHOX NM_006883.2 -/. - - c.-704G>A r.(?) p.(=) - -