ClinVar

NM_000391.4(TPP1):c.1582G>A (p.Asp528Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6614656 (on Assembly GRCh38)
• Chr11: 6635887 (on Assembly GRCh37)

Preferred name:

NM_000391.4(TPP1):c.1582G>A (p.Asp528Asn)

HGVS:

• NC_000011.10:g.6614656C>T
• NG_008653.1:g.9806G>A
• NM_000391.4:c.1582G>AMANE SELECT
• NP_000382.3:p.Asp528Asn
• LRG_830t1:c.1582G>A
• LRG_830:g.9806G>A
• LRG_830p1:p.Asp528Asn
• NC_000011.9:g.6635887C>T
• NC_000011.9:g.6635887C>T
• NM_000391.3:c.1582G>A

This HGVS expression did not pass validation

Protein change:

D528N

Links:

dbSNP: rs375364589

NCBI 1000 Genomes Browser:

rs375364589

Molecular consequence:

• NM_000391.4:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]