chrY:640842:G>C Detail (hg38) (SHOX)

Information

Genome

Assembly Position
hg19 chrY:551,577-551,577 View the variant detail on this assembly version.
hg38 chrY:640,842-640,842

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000711141.1:c.508G>C ENST00000711141.1:p.Ala170Pro
ENST00000711142.1:c.508G>C ENST00000711142.1:p.Ala170Pro
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 2011-12-01 no assertion criteria provided Leri-Weill dyschondrosteosis germline Detail
Pathogenic 2011-12-01 no assertion criteria provided Langer mesomelic dysplasia syndrome 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
0.005 Madelung Deformity A170P mutation in SHOX gene in a patient not presenting with Madelung deformity. BeFree 22461651 Detail
0.498 Leri-Weill dyschondrosteosis In conclusion, we have identified A170P as the first frequent SHOX mutation in G... BeFree 21712857 Detail
0.484 Langer mesomelic dysplasia syndrome In conclusion, we have identified A170P as the first frequent SHOX mutation in G... BeFree 21712857 Detail
0.023 Dwarfism The A170P mutation is the most prevalent mutation in the Spanish gypsy populatio... BeFree 22461651 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000451.4(SHOX):c.508G>C (p.Ala170Pro) AND Leri-Weill dyschondrosteosis ClinVar Detail
NM_000451.4(SHOX):c.508G>C (p.Ala170Pro) AND Langer mesomelic dysplasia syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
A170P mutation in SHOX gene in a patient not presenting with Madelung deformity. DisGeNET Detail
In conclusion, we have identified A170P as the first frequent SHOX mutation in Gypsy LWD and LMD ind... DisGeNET Detail
In conclusion, we have identified A170P as the first frequent SHOX mutation in Gypsy LWD and LMD ind... DisGeNET Detail
The A170P mutation is the most prevalent mutation in the Spanish gypsy population affected with shor... 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
rs397514461 dbSNP
Genome
hg38
Position
chrY:640,842-640,842
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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