chr12:112489104:C>A Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,926,908-112,926,908 View the variant detail on this assembly version.
hg38 chr12:112,489,104-112,489,104

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.1528C>A NP_002825.3:p.Gln510Lys
NM_001330437.1:c.1540C>A NP_001317366.1:p.Gln514Lys
Ensemble ENST00000351677.7:c.1528C>A ENST00000351677.7:p.Gln510Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 176876 OMIM
HGNC 9644 HGNC
Ensembl ENSG00000179295 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM13031 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Turner Syndrome, Male NA CLINVAR Detail
0.480 LEOPARD Syndrome In the boy, progressive HCM was diagnosed during the first week of life and a di... BeFree 25708222 Detail
0.480 LEOPARD Syndrome PTPN11 gene mutations: linking the Gln510Glu mutation to the LEOPARD syndrome ph... BeFree 16733669 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
In the boy, progressive HCM was diagnosed during the first week of life and a diagnosis of NSML was ... DisGeNET Detail
PTPN11 gene mutations: linking the Gln510Glu mutation to the LEOPARD syndrome phenotype. 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
rs397507549 dbSNP
Genome
hg38
Position
chr12:112,489,104-112,489,104
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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