chr15:76995677:G>A Detail (hg38) (PSTPIP1)

Information

Genome

Assembly Position
hg19 chr15:77,288,018-77,288,018 View the variant detail on this assembly version.
hg38 chr15:76,995,677-76,995,677

HGVS

Type Transcript Protein
RefSeq NM_001321136.1:c.36+68G>A
NM_001321137.1:c.36+68G>A
NM_003978.4:c.36+68G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.460
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 606347 OMIM
HGNC 9580 HGNC
Ensembl ENSG00000140368 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53608698 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2015-03-03 criteria provided, single submitter not provided germline Detail
Benign 2023-11-12 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 ankylosing spondylitis Polymorphisms associated in the allele frequencies test with severe BASFI/t in a... BeFree 22984424 Detail
<0.001 ankylosing spondylitis Polymorphisms associated in the allele frequencies test with severe BASFI/t in a... BeFree 22984424 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003978.5(PSTPIP1):c.36+68G>A AND not provided ClinVar Detail
NM_003978.5(PSTPIP1):c.36+68G>A AND not specified ClinVar Detail
Polymorphisms associated in the allele frequencies test with severe BASFI/t in all classifications w... DisGeNET Detail
Polymorphisms associated in the allele frequencies test with severe BASFI/t in all classifications w... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2254441 dbSNP
Genome
hg38
Position
chr15:76,995,677-76,995,677
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2254441
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4596
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7703
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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