chr12:112450391:T>G Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,888,195-112,888,195 View the variant detail on this assembly version.
hg38 chr12:112,450,391-112,450,391

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.211T>G NP_002825.3:p.Phe71Val
NM_080601.1:c.211T>G NP_542168.1:p.Phe71Val
NM_001330437.1:c.211T>G NP_001317366.1:p.Phe71Val
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 176876 OMIM
HGNC 9644 HGNC
Ensembl ENSG00000179295 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 2014-07-17 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Turner Syndrome, Male NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.211T>G (p.Phe71Val) AND not provided ClinVar 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
rs397507512 dbSNP
Genome
hg38
Position
chr12:112,450,391-112,450,391
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser