chrY:551571:C>T Detail (hg19) (SHOX)

Information

Genome

Assembly Position
hg19 chrY:551,571-551,571
hg38 chrY:640,836-640,836 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000711141.1:c.502C>T ENST00000711141.1:p.Arg168Trp
ENST00000711142.1:c.502C>T ENST00000711142.1:p.Arg168Trp
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2002-03-01 no assertion criteria provided Langer mesomelic dysplasia syndrome germline Detail
Pathogenic 2002-03-01 no assertion criteria provided Leri-Weill dyschondrosteosis 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 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000451.4(SHOX):c.502C>T (p.Arg168Trp) AND Langer mesomelic dysplasia syndrome ClinVar Detail
NM_000451.4(SHOX):c.502C>T (p.Arg168Trp) AND Leri-Weill dyschondrosteosis ClinVar Detail
NA DisGeNET Detail
NA 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
rs137852557 dbSNP
Genome
hg19
Position
chrY:551,571-551,571
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser