chr10:89711882:C>A Detail (hg19) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,711,882-89,711,882
hg38 chr10:87,952,125-87,952,125 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001304718.1:c.500C>A NP_001291647.1:p.Thr167Asn
NM_000314.6:c.500C>A NP_000305.3:p.Thr167Asn
NM_001304717.2:c.500C>A NP_001291646.2:p.Thr167Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 601728 OMIM
HGNC 9588 HGNC
Ensembl ENSG00000171862 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 2012-12-21 no assertion criteria provided macrocephaly-autism syndrome germline Detail
Likely pathogenic 2023-06-14 reviewed by expert panel PTEN hamartoma tumor syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.560 MACROCEPHALY/AUTISM SYNDROME NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000314.8(PTEN):c.500C>A (p.Thr167Asn) AND Macrocephaly-autism syndrome ClinVar Detail
NM_000314.8(PTEN):c.500C>A (p.Thr167Asn) AND PTEN hamartoma tumor syndrome 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
rs397514559 dbSNP
Genome
hg19
Position
chr10:89,711,882-89,711,882
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser