chrX:640851:C>T Detail (hg38) (SHOX)

Information

Genome

Assembly Position
hg19 chrX:601,586-601,586 View the variant detail on this assembly version.
hg38 chrX:640,851-640,851

HGVS

Type Transcript Protein
RefSeq NM_006883.2:c.517C>T NP_006874.1:p.Arg173Cys
NM_000451.3:c.517C>T NP_000442.1:p.Arg173Cys
Ensemble ENST00000334060.8:c.517C>T ENST00000334060.8:p.Arg173Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 312865 OMIM
HGNC 10853 HGNC
Ensembl ENSG00000185960 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv412662990 TogoVar
COSMIC COSM4725887 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-01-07 criteria provided, single submitter Leri-Weill dyschondrosteosis de novo germline Detail
Pathogenic 2015-07-29 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.498 Leri-Weill dyschondrosteosis NA CLINVAR Detail
0.484 Langer mesomelic dysplasia syndrome Functional analysis of a missense mutation R173C (C517T) affecting the identifie... BeFree 15173321 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000451.4(SHOX):c.517C>T (p.Arg173Cys) AND Leri-Weill dyschondrosteosis ClinVar Detail
NM_000451.4(SHOX):c.517C>T (p.Arg173Cys) AND not provided ClinVar Detail
NA DisGeNET Detail
Functional analysis of a missense mutation R173C (C517T) affecting the identified SHOX-NLS in two fa... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs137852556 dbSNP
Genome
hg38
Position
chrX:640,851-640,851
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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