ClinVar

NM_000942.5(PPIB):c.414_423del (p.Ser139fs)

Genes:

PPIB:peptidylprolyl isomerase B [Gene - OMIM - HGNC]
SNX22:sorting nexin 22 [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q22.31

Genomic location:

• Chr15: 64156830 - 64156839 (on Assembly GRCh38)
• Chr15: 64449029 - 64449038 (on Assembly GRCh37)

Preferred name:

NM_000942.5(PPIB):c.414_423del (p.Ser139fs)

HGVS:

• NC_000015.10:g.64156830_64156839del
• NG_012979.1:g.11317_11326del
• NG_033071.1:g.10114_10123del
• NM_000942.5:c.414_423delMANE SELECT
• NM_024798.3:c.*2322_*2331delMANE SELECT
• NP_000933.1:p.Ser139Thrfs
• NP_000933.1:p.Ser139fs
• LRG_10t1:c.414_423del
• LRG_10:g.11317_11326del
• LRG_10p1:p.Ser139Thrfs
• NC_000015.9:g.64449029_64449038del
• NM_000942.4:c.414_423delGAGCATGGCC
• NR_073534.2:n.2996_3005del
• p.(Ser139Thrfs*21)

This HGVS expression did not pass validation

Protein change:

S139fs

Links:

dbSNP: rs137853868

NCBI 1000 Genomes Browser:

rs137853868

Molecular consequence:

• NM_024798.3:c.*2322_*2331del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000942.5:c.414_423del - frameshift variant - [Sequence Ontology: SO:0001589]
• NR_073534.2:n.2996_3005del - non-coding transcript variant - [Sequence Ontology: SO:0001619]