ClinVar

NM_000391.4(TPP1):c.510G>A (p.Val170=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6617152 (on Assembly GRCh38)
• Chr11: 6638383 (on Assembly GRCh37)

Preferred name:

NM_000391.4(TPP1):c.510G>A (p.Val170=)

HGVS:

• NC_000011.10:g.6617152C>T
• NG_008653.1:g.7310G>A
• NM_000391.4:c.510G>AMANE SELECT
• NP_000382.3:p.Val170=
• LRG_830t1:c.510G>A
• LRG_830:g.7310G>A
• LRG_830p1:p.Val170=
• NC_000011.9:g.6638383C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs751488322

NCBI 1000 Genomes Browser:

rs751488322

Molecular consequence:

• NM_000391.4:c.510G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1