ClinVar

NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly)

Gene:

TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6615503 (on Assembly GRCh38)
• Chr11: 6636734 (on Assembly GRCh37)

Preferred name:

NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly)

HGVS:

• NC_000011.10:g.6615503T>C
• NG_008653.1:g.8959A>G
• NM_000391.4:c.1205A>GMANE SELECT
• NP_000382.3:p.Glu402Gly
• LRG_830t1:c.1205A>G
• LRG_830:g.8959A>G
• LRG_830p1:p.Glu402Gly
• NC_000011.9:g.6636734T>C
• NM_000391.3:c.1205A>G

This HGVS expression did not pass validation

Protein change:

E402G

Links:

dbSNP: rs1471156821

NCBI 1000 Genomes Browser:

rs1471156821

Molecular consequence:

• NM_000391.4:c.1205A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1